Molecular genetics of cystinuria: Mutation analysis of SLC3A1 and evidence for another gene in the Type I (silent) phenotype
Author:
Publisher
Elsevier BV
Subject
Nephrology
Reference25 articles.
1. Cystinuria;Segal,1995
2. Ontogeny modifies manifestations of cystinuria genes: Implications for counselling;Scriver;J Pediatr,1985
3. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program;Goodyer;J Pediatr,1993
4. Cloning and chromosomal localization of a human kidney cDNA involved in cystine, dibasic, and neutral amino acid transport;Lee;J Clin Invest,1993
5. Assignment of the gene for cystinuria (SLC3A1) to human chromosome 2p21 by fluorescence in situ hybridization;Zhang;Genomics,1994
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