학술논문
Genetic heterogeneity in cystinuria: the SLC3A1 gene is linked to type I but not to type III cystinuria
Document Type
Academic Journal
Author
Source
Proceedings of the National Academy of Sciences of the United States. Oct 10, 1995, Vol. 92 Issue 21, p9667, 5 p.
Subject
Language
ISSN
0027-8424
Abstract
Cystinuria is an autosomal recessive aminoaciduria with three urinary phenotypes, namely I, II and III. SLC3A1, an amino acid transporter gene is responsible for cystinuria. Mutation in the SLC3A1 gene produces type I cystinuria and the type III is caused by a different gene. There is a genetic heterogeneity in cystinuria. The disease is called a multiallelic monogenic disease. Linkages with heterogeneity are found in the SLC3A1 gene family.