Article
Genomic organization of SLC3A1, a transporter gene mutated in cystinuria.
Genomics - 15 Aug 1996
Pras E, Sood R, Raben N, Aksentijevich I, Chen X, Kastner D L
Abstract excerpt
The SLC3A1 gene encodes a transport protein for cystine and the dibasic amino acids. Recently mutations in this gene have been shown to cause cystinuria. We report the genomic structure and organization of SLC3A1, which is composed of 10 exons and spans nearly 45 kb. Until now screening for mutations in SLC3A1 has been based on RT-PCR amplification of illegitimate mRNA transcripts from white blood cells. In this...
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