A Case of Cystinuria With Compound Heterozygous Mutations Both in SLC3A1 and SLC7A9 Genes
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Cystinuria is an autosomal recessively inherited genetic disorder, and is typically classified into type A, caused by mutations in SLC3A1, or type B, caused by mutations in SLC7A9. While the predominance of the genotypes varies among countries, due to lack of ... ...