Mutational analysis of candidate genes in 24 amelogenesis imperfecta families
dc.contributor.author | Kim, Jung-Wook | en_US |
dc.contributor.author | Simmer, James P. | en_US |
dc.contributor.author | Lin, Brent P.-L. | en_US |
dc.contributor.author | Seymen, Figen | en_US |
dc.contributor.author | Bartlett, John D. | en_US |
dc.contributor.author | Hu, Jan C-C. | en_US |
dc.date.accessioned | 2010-06-01T19:50:13Z | |
dc.date.available | 2010-06-01T19:50:13Z | |
dc.date.issued | 2006-05 | en_US |
dc.identifier.citation | Kim, Jung-Wook; Simmer, James P.; Lin, Brent P.-L.; Seymen, Figen; Bartlett, John D.; Hu, Jan C.-C. (2006). "Mutational analysis of candidate genes in 24 amelogenesis imperfecta families." European Journal of Oral Sciences 114(s1): 3-12. <http://hdl.handle.net/2027.42/72969> | en_US |
dc.identifier.issn | 0909-8836 | en_US |
dc.identifier.issn | 1600-0722 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/72969 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16674655&dopt=citation | en_US |
dc.format.extent | 548802 bytes | |
dc.format.extent | 3109 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Blackwell Publishing Ltd | en_US |
dc.rights | 2006 Eur J Oral Sci | en_US |
dc.subject.other | Amelogenesis Imperfecta | en_US |
dc.subject.other | AMELX | en_US |
dc.subject.other | ENAM | en_US |
dc.subject.other | Enamel | en_US |
dc.subject.other | MMP20 | en_US |
dc.title | Mutational analysis of candidate genes in 24 amelogenesis imperfecta families | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Dentistry | en_US |
dc.subject.hlbsecondlevel | Otolaryngology | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | University of Michigan School of Dentistry, University of Michigan Dental Research Laboratory, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationother | Seoul National University, College of Dentistry, Department of Pediatric Dentistry & Dental Research Institute, Seoul, Korea | en_US |
dc.contributor.affiliationother | UCSF School of Dentistry, Department of Growth and Development, San Francisco, CA, USA | en_US |
dc.contributor.affiliationother | University of Istanbul, Faculty of Dentistry, Department of Pedodontics, Çapa, Istanbul, Turkey | en_US |
dc.contributor.affiliationother | The Forsyth Institute, Harvard-Forsyth Department of Oral Biology, Boston, MA, USA | en_US |
dc.identifier.pmid | 16674655 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/72969/1/j.1600-0722.2006.00278.x.pdf | |
dc.identifier.doi | 10.1111/j.1600-0722.2006.00278.x | en_US |
dc.identifier.source | European Journal of Oral Sciences | en_US |
dc.identifier.citedreference | Witkop CJ Jr, Sauk JJ Jr. Heritable defects of enamel. In: Stewart RE, Prescott GH, eds. Oral facial genetics. St Louis: C.V. Mosby, 1976; 151 – 226. | en_US |
dc.identifier.citedreference | Witkop CJ Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol 1989; 17: 547 – 553. | en_US |
dc.identifier.citedreference | BÄckman B, Holmgren G. Amelogenesis imperfecta: a genetic study. Hum Hered 1988; 38: 189 – 206. | en_US |
dc.identifier.citedreference | Salido EC, Yen PH, Koprivnikar K, Yu L-C, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and Y chromosomes. Am J Hum Gen 1992; 50: 303 – 316. | en_US |
dc.identifier.citedreference | Berkman MD, Singer A. Demonstration of the Lyon hypothesis in X-linked dominant hypoplastic amelogenesis imperfecta. Birth Defects Orig Artic Ser 1971; 7: 204 – 209. | en_US |
dc.identifier.citedreference | Simmer JP, Snead ML. Molecular biology of the amelogenin gene. In: Robinson C, Kirkham J, Shore R, eds. Dental enamel: formation to destruction. Boca Raton: CRC Press, 1995; 59 – 84. | en_US |
dc.identifier.citedreference | Akane A, Seki S, Shiono H, Nakamura H, Hasegawa M, Kagawa M, Matsubara K, Nakahori Y, Nagafuchi S, Nakagome Y. Sex determination of forensic samples by dual PCR amplification of an X-Y homologous gene. Forensic Sci Int 1992; 52: 143 – 148. | en_US |
dc.identifier.citedreference | Steinlechner M, Berger B, Niederstatter H, Parson W. Rare failures in the amelogenin sex test. Int J Legal Med 2002; 116: 117 – 120. | en_US |
dc.identifier.citedreference | Chang YM, Burgoyne LA, Both K. Higher failures of amelogenin sex test in an Indian population group. J Forensic Sci 2003; 48: 1309 – 1313. | en_US |
dc.identifier.citedreference | Lattanzi W, Di Giacomo MC, Lenato GM, Chimienti G, Voglino G, Resta N, Pepe G, Guanti G. A large interstitial deletion encompassing the amelogenin gene on the short arm of the Y chromosome. Hum Genet 2005; 116: 395 – 401. | en_US |
dc.identifier.citedreference | Hart PS, Hart TC, Simmer JP, Wright JT. A nomenclature for X-linked amelogenesis imperfecta. Arch Oral Biol 2002; 47: 255 – 260. | en_US |
dc.identifier.citedreference | LagerstrÖm M, Dahl N, Nakahori Y, Nakagome YB, BÄckman B, Landegren U, Pettersson U. A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). Genomics 1991; 10: 971 – 975. | en_US |
dc.identifier.citedreference | Kim J-W, Simmer JP, Hu YY, Lin BP-L, Boyd C, Wright JT, Yamada CJM, Rayes SK, Feigal RJ, Hu JC-C. Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta. J Dent Res 2004; 83: 378 – 383. | en_US |
dc.identifier.citedreference | Sekiguchi H, Kiyoshi M, Yakushiji M. DNA diagnosis of X-linked amelogenesis imperfecta using PCR detection method of the human amelogenin gene. Dent Japan 2001; 37: 109 – 112. | en_US |
dc.identifier.citedreference | Sekiguchi H, Alaluusua S, Minaguchi K, Yakushiji M. A new mutation in the amelogenin gene causes X-linked amelogenesis imperfecta. J Dent Res 2001; 80: 617. | en_US |
dc.identifier.citedreference | LagerstrÖm-Fermer M, Nilsson MB, BÄckman B, Salido E, Shapiro L, Pettersson U, Landegren U. Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta. Genomics 1995; 26: 159 – 162. | en_US |
dc.identifier.citedreference | Lench NJ, Winter GB. Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1). Hum Mutat 1995; 5: 251 – 259. | en_US |
dc.identifier.citedreference | Aldred MJ, Crawford PJ, Roberts E, Thomas NS. Identification of a nonsense mutation in the amelogenin gene (AMELX) in a family with X-linked amelogenesis imperfecta (AIH1). Hum Genet 1992; 90: 413 – 416. | en_US |
dc.identifier.citedreference | Lench NJ, Brook AH, Winter GB. SSCP detection of a nonsense mutation in exon 5 of the amelogenin gene (AMGX) causing X-linked amelogenesis imperfecta (AIH1). Hum Mol Genet 1994; 3: 827 – 828. | en_US |
dc.identifier.citedreference | Collier PM, Sauk JJ, Rosenbloom SJ, Yuan ZA, Gibson CW. An amelogenin gene defect associated with human X-linked amelogenesis imperfecta. Arch Oral Biol 1997; 42: 235 – 242. | en_US |
dc.identifier.citedreference | Hart S, Hart T, Gibson C, Wright JT. Mutational analysis of X-linked amelogenesis imperfecta in multiple families. Arch Oral Biol 2000; 45: 79 – 86. | en_US |
dc.identifier.citedreference | Ravassipour DB, Hart PS, Hart TC, Ritter AV, Yamauchi M, Gibson C, Wright JT. Unique enamel phenotype associated with amelogenin gene (AMELX) codon 41 point mutation. J Dent Res 2000; 79: 1476 – 1481. | en_US |
dc.identifier.citedreference | Hart PS, Aldred MJ, Crawford PJ, Wright NJ, Hart TC, Wright JT. Amelogenesis imperfecta phenotype–genotype correlations with two amelogenin gene mutations. Arch Oral Biol 2002; 47: 261 – 265. | en_US |
dc.identifier.citedreference | Greene SR, Yuan ZA, Wright JT, Amjad H, Abrams WR, Buchanan JA, Trachtenberg DI, Gibson CW. A new frameshift mutation encoding a truncated amelogenin leads to X-linked amelogenesis imperfecta. Arch Oral Biol 2002; 47: 211 – 217. | en_US |
dc.identifier.citedreference | Kindelan SA, Brook AH, Gangemi L, Lench N, Wong FS, Fearne J, Jackson Z, Foster G, Stringer BM. Detection of a novel mutation in X-linked amelogenesis imperfecta. J Dent Res 2000; 79: 1978 – 1982. | en_US |
dc.identifier.citedreference | Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC. Relationship of phenotype and genotype in X-linked amelogenesis imperfecta. Connect Tissue Res 2003; 44: 72 – 78. | en_US |
dc.identifier.citedreference | Krebsbach PH, Lee SK, Matsuki Y, Kozak CA, Yamada K, Yamada Y. Full-length sequence, localization, and chromosomal mapping of ameloblastin: a novel tooth-specific gene. J Biol Chem 1996; 271: 4431 – 4435. | en_US |
dc.identifier.citedreference | Hu CC, Hart TC, Dupont BR, Chen JJ, Sun X, Qian Q, Zhang CH, Jiang H, Mattern VL, Wright JT, Simmer JP. Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. J Dent Res 2000; 79: 912 – 919. | en_US |
dc.identifier.citedreference | Deutsch D, Dafni L, Palmon A, Hekmati M, Young MF, Fisher LW. Tuftelin: enamel mineralization and amelogenesis imperfecta. Ciba Found Symp 1997; 205: 135 – 147. | en_US |
dc.identifier.citedreference | Forsman K, Lind L, BÄckman B, Westermark E, Holmgren G. Localization of a gene for autosomal dominant amelogenesis imperfecta (ADAI) to chromosome 4q. Hum Mol Genet 1994; 3: 1621 – 1625. | en_US |
dc.identifier.citedreference | KÄrrman CB, BÄckman B, Dixon M, Holmgren G, Forsman K. Mapping of the locus for autosomal dominant amelogenesis imperfecta (AIH2) to a 4-Mb YAC contig on chromosome 4q11-q21. Genomics 1997; 39: 164 – 170. | en_US |
dc.identifier.citedreference | MacDougall M, Dupont BR, Simmons D, Reus B, Krebsbach P, Karrman C, Holmgren G, Leach RJ, Forsman K. Ameloblastin gene (AMBN) maps within the critical region for autosomal dominant amelogenesis imperfecta at chromosome 4q21. Genomics 1997; 41: 115 – 118. | en_US |
dc.identifier.citedreference | Kim J-W, Seymen F, Lin BP-L, Kiziltan B, Gencay K, Simmer JP, Hu JC-C. ENAM mutations in autosomal dominant amelogenesis imperfecta. J Dent Res 2005; 84: 278 – 282. | en_US |
dc.identifier.citedreference | Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 2003; 40: 900 – 906. | en_US |
dc.identifier.citedreference | Hart PS, Michalec MD, Seow WK, Hart TC, Wright JT. Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. Arch Oral Biol 2003; 48: 589 – 596. | en_US |
dc.identifier.citedreference | Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ. Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. Hum Mol Genet 2001; 10: 1673 – 1677. | en_US |
dc.identifier.citedreference | Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. The first report of a Japanese family with autosomal-dominant amelogenesis imperfecta caused by an enamelin gene mutation. Arch Comp Biol Tooth Enam 2002; 8: 72 – 75. | en_US |
dc.identifier.citedreference | Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y. Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon–intron boundary. J Dent Res 2002; 81: 738 – 742. | en_US |
dc.identifier.citedreference | MÅrdh CK, BÄckman B, Holmgren G, Hu JC, Simmer JP, Forsman-Semb K. A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet 2002; 11: 1069 – 1074. | en_US |
dc.identifier.citedreference | KÄrrman CB, BÄckman B, Holmgren G, Forsman K. Genetic heterogeneity of autosomal dominant amelogenesis imperfecta demonstrated by its exclusion from the AIH2 region on human chromosome 4q. Arch Oral Biol 1996; 41: 893 – 900. | en_US |
dc.identifier.citedreference | Hart PS, Wright JT, Savage M, Kang G, Bensen JT, Gorry MC, Hart TC. Exclusion of candidate genes in two families with autosomal dominant hypocalcified amelogenesis imperfecta. Eur J Oral Sci 2003; 111: 326 – 331. | en_US |
dc.identifier.citedreference | Hu JC-C, Zhang CH, Ying Y, Simmer JP. Cloning and characterization of the mouse and human enamelin genes. J Dent Res 2001; 80: 898 – 902. | en_US |
dc.identifier.citedreference | Hu JC-C, Yamakoshi Y. Enamelin and autosomal-dominant amelogenesis imperfecta. Crit Rev Oral Biol Med 2003; 14: 387 – 398. | en_US |
dc.identifier.citedreference | Cerny R, Slaby I, Hammarstrom L, Wurtz T. A novel gene expressed in rat ameloblasts codes for proteins with cell binding domains. J Bone Miner Res 1996; 11: 883 – 891. | en_US |
dc.identifier.citedreference | Hu C-C, Fukae M, Uchida T, Qian Q, Zhang CH, Ryu OH, Tanabe T, Yamakoshi Y, Murakami C, Dohi N, Shimizu M, Simmer JP. Sheathlin: cloning, cDNA/polypeptide sequences, and immunolocalization of porcine enamel proteins concentrated in the sheath space. J Dent Res 1997; 76: 648 – 657. | en_US |
dc.identifier.citedreference | Uchida T, Fukae M, Tanabe T, Yamakoshi Y, Satoda T, Murakami C, Takahashi O, Shimizu M. Immunochemical and immunocytochemical study of a 15 kDa non-amelogenin and related proteins in the porcine immature enamel: proposal of a new group of enamel proteins sheath proteins. Biomed Res 1995; 16: 131 – 140. | en_US |
dc.identifier.citedreference | Fukumoto S, Kiba T, Hall B, Iehara N, Nakamura T, Longenecker G, Krebsbach PH, Nanci A, Kulkarni AB, Yamada Y. Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol 2004; 167: 973 – 983. | en_US |
dc.identifier.citedreference | Lichtenstein J, Warson R, Jorgenson R, Dorst JP, McKusick VA. The tricho-dento-osseous (TDO) syndrome. Am J Hum Genet 1972; 24: 569 – 582. | en_US |
dc.identifier.citedreference | Wright JT, Kula K, Hall K, Simmons JH, Hart TC. Analysis of the tricho–dento–osseous syndrome genotype and phenotype. Am J Med Genet 1997; 72: 197 – 204. | en_US |
dc.identifier.citedreference | Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT. Genetic linkage of the tricho–dento–osseous syndrome to chromosome 17q21. Hum Mol Genet 1997; 6: 2279 – 2284. | en_US |
dc.identifier.citedreference | Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC. Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome. Hum Mol Genet 1998; 7: 563 – 569. | en_US |
dc.identifier.citedreference | Price JA, Wright JT, Kula K, Bowden DW, Hart TC. A common DLX3 gene mutation is responsible for tricho–dento–osseous syndrome in Virginia and North Carolina families. J Med Genet 1998; 35: 825 – 828. | en_US |
dc.identifier.citedreference | Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, Macdougall M. DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet 2005; 133: 138 – 141. | en_US |
dc.identifier.citedreference | Nusier M, Yassin O, Hart TC, Samimi A, Wright JT. Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2004; 97: 220 – 230. | en_US |
dc.identifier.citedreference | Bartlett JD, Simmer JP, Xue J, Margolis HC, Moreno EC. Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ. Gene 1996; 183: 123 – 128. | en_US |
dc.identifier.citedreference | Simmer JP, Fukae M, Tanabe T, Yamakoshi Y, Uchida T, Xue J, Margolis HC, Shimizu M, Dehart BC, Hu CC, Bartlett JD. Purification, characterization, and cloning of enamel matrix serine proteinase 1. J Dent Res 1998; 77: 377 – 386. | en_US |
dc.identifier.citedreference | Hu JC, Ryu OH, Chen JJ, Uchida T, Wakida K, Murakami C, Jiang H, Qian Q, Zhang C, Ottmers V, Bartlett JD, Simmer JP. Localization of EMSP1 expression during tooth formation and cloning of mouse cDNA. J Dent Res 2000; 79: 70 – 76. | en_US |
dc.identifier.citedreference | Simmer JP, Sun X, Yamada Y, Zhang CH, Bartlett JD, Hu JC-C. Enamelysin and kallikrein-4 expression in the mouse incisor. In: Kobayashi I, Ozawa H, eds. Biomineralization: formation, diversity, evolution and application. Hadano: Tokai University Press, 2004; 348 – 352. | en_US |
dc.identifier.citedreference | Bartlett JD. Enamelysin. In: Barrett A, Rawlings N, Woessner J, eds. Handbook of proteolytic enzymes. San Diego: Academic Press, 2004; 561 – 564. | en_US |
dc.identifier.citedreference | Simmer JP. Prostase. In: Barrett A, Rawlings N, Woessner J, eds. Handbook of proteolytic enzymes. San Diego: Academic Press, 2004; 1612 – 1614. | en_US |
dc.identifier.citedreference | Llano E, PendÁs AM, KnÄuper V, Sorsa T, Salo T, Salido E, Murphy G, Bartlett JD, Simmer JPL, LÓpez-OtÍn C. Identification and structural and functional characterization of human enamelysin (MMP-20). Biochemistry 1997; 36: 15101 – 15108. | en_US |
dc.identifier.citedreference | Caterina JJ, Shi J, Krakora S, Bartlett JD, Engler JA, Kozak CA, Birkedal-Hansen H. Isolation, characterization, and chromosomal location of the mouse enamelysin gene. Genomics 1999; 62: 308 – 311. | en_US |
dc.identifier.citedreference | Bartlett JD, Beniash E, Lee DH, Smith CE. Decreased mineral content in MMP-20 null mouse enamel is prominent during the maturation stage. J Dent Res 2004; 83: 909 – 913. | en_US |
dc.identifier.citedreference | Dupont BR, Hu C-C, Reveles X, Simmer JP. Assignment of serine protease 17 (PRSS17) to human chromosome bands 19q13.3–>q13.4 by in situ hybridization. Cytogenet Cell Genet 1999; 86: 212 – 213. | en_US |
dc.identifier.citedreference | Hu JC, Zhang C, Sun X, Yang Y, Cao X, Ryu O, Simmer JP. Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors. Gene 2000; 251: 1 – 8. | en_US |
dc.identifier.citedreference | Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT. Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet 2004; 41: 545 – 549. | en_US |
dc.identifier.citedreference | Kim J-W, Simmer JP, Hart TC, Hart PS, Bartlett JD, Hu JC-C. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet 2005; 42: 271 – 275. | en_US |
dc.identifier.citedreference | Zambrano M, Nikitakis NG, Sanchez-Quevedo MC, Sauk JJ, Sedano H, Rivera H. Oral and dental manifestations of vitamin D-dependent rickets type I. report of a pediatric case. Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2003; 95: 705 – 709. | en_US |
dc.identifier.citedreference | Slavkin HC. Molecular determinants of tooth development: a review. Crit Rev Oral Biol Med 1990; 1: 1 – 16. | en_US |
dc.identifier.citedreference | Sasaki T. Cell biology of tooth enamel formation. Functional electron microscopic monographs. Monogr Oral Sci 1990; 14: 1 – 204. | en_US |
dc.identifier.citedreference | Thesleff I. Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci 2003; 116: 1647 – 1648. | en_US |
dc.identifier.citedreference | Vastardis H. The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop 2000; 117: 650 – 656. | en_US |
dc.identifier.citedreference | Vastardis H, Karimbux N, Suthua SW, Seidman JG, Seidman CE. A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet 1996; 13: 417 – 421. | en_US |
dc.identifier.citedreference | Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI. Mutation of PAX9 is associated with oligodontia. Nat Genet 2000; 24: 18 – 19. | en_US |
dc.identifier.citedreference | Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, Munoz F, Morgan D, Clarke A, Baybayan P, Chen EY, Ezer S, Saarialho-Kere UDI, Chapelle A, Schlessinger D. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet 1996; 13: 409 – 416. | en_US |
dc.identifier.citedreference | Bayes M, Hartung AJ, Ezer S, Pispa J, Thesleff I, Srivastava AK, Kere J. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet 1998; 7: 1661 – 1669. | en_US |
dc.identifier.citedreference | Semina EV, Reiter R, Leysens NJ, Alward WL, Small KW, Datson NA, Siegel-Bartelt J, Bierke-Nelson D, Bitoun P, Zabel BU, Carey JC, Murray JC. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996; 14: 392 – 399. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
Files in this item
Remediation of Harmful Language
The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.
Accessibility
If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.