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Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes (I, II, and III) have been described. An amino acid transporter gene, SLC3A1 (formerly rBAT), was found to be responsible for this disorder. Mutational and linkage analysis demonstrated the presence of genetic heter...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Bisceglia, L, Calonge, M J, Totaro, A, Feliubadaló, L, Melchionda, S, García, J, Testar, X, Gallucci, M, Ponzone, A, Zelante, L, Zorzano, A, Estivill, X, Gasparini, P, Nunes, V, Palacín, M
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 1997
विषय:
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712527/
https://ncbi.nlm.nih.gov/pubmed/9042921
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