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

作者信息

Pasteris N G, Gorski J L

机构信息

Department of Human Genetics and Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor 48109-0688, USA.

出版信息

Hum Genet. 1995 Oct;96(4):494. doi: 10.1007/BF00191816.

DOI:10.1007/BF00191816

PMID:7557980

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.

摘要