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An intragenic Taq I polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

dc.contributor.authorPasteris, N. Germanen_US
dc.contributor.authorGorski, Jerome L.en_US
dc.date.accessioned2006-09-11T19:13:29Z
dc.date.available2006-09-11T19:13:29Z
dc.date.issued1995-10en_US
dc.identifier.citationPasteris, 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.issn0340-6717en_US
dc.identifier.issn1432-1203en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47642
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=7557980&dopt=citationen_US
dc.description.abstractA 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.extent99355 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlagen_US
dc.subject.otherHuman Geneticsen_US
dc.subject.otherMolecular Medicineen_US
dc.subject.otherMetabolic Diseasesen_US
dc.subject.otherInternal Medicineen_US
dc.subject.otherBiomedicineen_US
dc.titleAn intragenic Taq I polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndromeen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbsecondlevelBiological Chemistryen_US
dc.subject.hlbtoplevelScienceen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Human Genetics and Pediatrics and Communicable Diseases, University of Michigan Medical Center, 48109-0688, Ann Arbor, MI, USAen_US
dc.contributor.affiliationumDepartment 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, USAen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid7557980en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47642/1/439_2004_Article_BF00191816.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/BF00191816en_US
dc.identifier.sourceHuman Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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