An intragenic Taq I polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome
dc.contributor.author | Pasteris, N. German | en_US |
dc.contributor.author | Gorski, Jerome L. | en_US |
dc.date.accessioned | 2006-09-11T19:13:29Z | |
dc.date.available | 2006-09-11T19:13:29Z | |
dc.date.issued | 1995-10 | en_US |
dc.identifier.citation | Pasteris, N. German; Gorski, Jerome L.; (1995). "An intragenic Taq I polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome." Human Genetics 96(4): 494-494. <http://hdl.handle.net/2027.42/47642> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47642 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7557980&dopt=citation | en_US |
dc.description.abstract | A Taq I polymorphism, located in intron 4 of the faciogenital dysplasia ( FGD1 ) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accurate carrier detection of individuals at risk for Aarskog syndrome. | en_US |
dc.format.extent | 99355 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | Human Genetics | en_US |
dc.subject.other | Molecular Medicine | en_US |
dc.subject.other | Metabolic Diseases | en_US |
dc.subject.other | Internal Medicine | en_US |
dc.subject.other | Biomedicine | en_US |
dc.title | An intragenic Taq I polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Human Genetics and Pediatrics and Communicable Diseases, University of Michigan Medical Center, 48109-0688, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationum | Department of Human Genetics and Pediatrics and Communicable Diseases, University of Michigan Medical Center, 48109-0688, Ann Arbor, MI, USA; Pediatrics and Communicable Diseases, Division of Pediatric Genetics, University of Michigan Medical Center, 48109-0688, Ann Arbor, MI, USA | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 7557980 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47642/1/439_2004_Article_BF00191816.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/BF00191816 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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