Five novel RPGR mutations in families with X-linked retinitis pigmentosa Communicated by Mark H. Paalman Online Citation: Human Mutation , Mutation in Brief #396 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/396.pdf
dc.contributor.author | Guevara-Fujita, Maria | en_US |
dc.contributor.author | Fahrner, Stacey | en_US |
dc.contributor.author | Buraczynska, Kinga | en_US |
dc.contributor.author | Cook, Jason | en_US |
dc.contributor.author | Wheaton, Dianna | en_US |
dc.contributor.author | Cortes, Fanny | en_US |
dc.contributor.author | Vicencio, Cesar | en_US |
dc.contributor.author | Pena, Marcela | en_US |
dc.contributor.author | Fishman, Gerald A. | en_US |
dc.contributor.author | Mintz-Hittner, Helen | en_US |
dc.contributor.author | Birch, David | en_US |
dc.contributor.author | Hoffman, Dennis | en_US |
dc.contributor.author | Mears, Alan J. | en_US |
dc.contributor.author | Fujita, Ricardo | en_US |
dc.contributor.author | Swaroop, Anand | en_US |
dc.date.accessioned | 2006-04-19T14:15:02Z | |
dc.date.available | 2006-04-19T14:15:02Z | |
dc.date.issued | 2001-02 | en_US |
dc.identifier.citation | Guevara-Fujita, Maria; Fahrner, Stacey; Buraczynska, Kinga; Cook, Jason; Wheaton, Dianna; Cortes, Fanny; Vicencio, Cesar; Pena, Marcela; Fishman, Gerald A.; Mintz-Hittner, Helen; Birch, David; Hoffman, Dennis; Mears, Alan J.; Fujita, Ricardo; Swaroop, Anand (2001)."Five novel RPGR mutations in families with X-linked retinitis pigmentosa Communicated by Mark H. Paalman Online Citation: Human Mutation , Mutation in Brief #396 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/396.pdf ." Human Mutation 17(2): 151-151. <http://hdl.handle.net/2027.42/35179> | en_US |
dc.identifier.issn | 1059-7794 | en_US |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/35179 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=11180598&dopt=citation | en_US |
dc.description.abstract | X-linked forms of retinitis pigmentosa (XLRP) are among the most severe because of their early onset, often leading to significant visual impairment before the fourth decade. RP3, genetically localized at Xp21.1, accounts for 70% of XLRP in different populations. The RPGR ( R etinitis P igmentosa G TPase R egulator) gene that was isolated from the RP3 region is mutated in 20% of North American families with XLRP. From mutation analysis of 27 independent XLRP families, we have identified five novel RPGR mutations in 5 of the families (160delA, 789 A>T, IVS8+1 G>C, 1147insT and 1366 G>A). One of these mutations was detected in a family from Chile. Hum Mutat 17:151, 2001. © 2001 Wiley-Liss, Inc. | en_US |
dc.format.extent | 24287 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | John Wiley & Sons, Inc. | en_US |
dc.subject.other | Life and Medical Sciences | en_US |
dc.subject.other | Genetics | en_US |
dc.title | Five novel RPGR mutations in families with X-linked retinitis pigmentosa Communicated by Mark H. Paalman Online Citation: Human Mutation , Mutation in Brief #396 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/396.pdf | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA ; Facultad de Medicina, Universidad San Martin de Porres, Lima, Peru | en_US |
dc.contributor.affiliationum | Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA ; Department of Human Genetics, W.K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA ; W.K. Kellogg Eye Center, 1000 Wall Street, Ann Arbor, MI 48105, USA | en_US |
dc.contributor.affiliationother | Retina Foundation of the Southwest, Dallas, TX, USA | en_US |
dc.contributor.affiliationother | INTA Universidad de Chile, Santiago, Chile | en_US |
dc.contributor.affiliationother | INTA Universidad de Chile, Santiago, Chile | en_US |
dc.contributor.affiliationother | INTA Universidad de Chile, Santiago, Chile | en_US |
dc.contributor.affiliationother | University of Illinois Eye and Ear Infirmary, Chicago, IL, USA | en_US |
dc.contributor.affiliationother | Department of Ophthalmology and Visual Sciences, University of Texas, Houston, TX, USA | en_US |
dc.contributor.affiliationother | Retina Foundation of the Southwest, Dallas, TX, USA | en_US |
dc.contributor.affiliationother | Retina Foundation of the Southwest, Dallas, TX, USA | en_US |
dc.identifier.pmid | 11180598 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/35179/1/7_ftp.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1002/1098-1004(200102)17:2<151::AID-HUMU7>3.0.CO;2-W | en_US |
dc.identifier.source | Human Mutation | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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