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...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 1997
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1712527/
https://ncbi.nlm.nih.gov/pubmed/9042921
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