Article
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1.
Genomics - 15 Sept 1999
Feliubadaló L, Bisceglia L, Font M, Dello Strologo L, Beccia E, Arslan-Kirchner M, Steinmann B, Zelante L, Estivill X, Zorzano A, Palacín M, Gasparini P, Nunes V
Abstract excerpt
Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes have been described. The gene responsible for type I, SLC3A1, encodes the amino acid transporter rBAT. This gene is not responsible for types II or III. Recently the type III locus (CSNU3) was mapped by two groups to overlapping 6-Mb regions on chromosome 19q. In the present study, we restrict the critical region for non-type I...
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