Abstract:
:A Taq1 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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Pasteris NG,Gorski JLdoi
10.1007/BF00191816subject
Has Abstractpub_date
1995-10-01 00:00:00pages
494issue
4eissn
0340-6717issn
1432-1203journal_volume
96pub_type
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