Molecular Genetics of Cystinuria: Identification of Four New Mutations and Seven Polymorphisms, and Evidence for Genetic Heterogeneity

A cystinuria disease gene (rBAT) has been recently identified, and some mutations causing the disease have been described. The frequency of these mutations has been investigated in a large sample of 51 Italian and Spanish cystinuric patients. In addition, to identify new mutated alleles, genomic DNA...

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Detalhes bibliográficos
Main Authors: Gasparini, Paolo, Calonge, Maria Julia, Bisceglia, Luigi, Purroy, Jesus, Dianzani, Irma, Notarangelo, Angelo, Rousaud, Ferran, Gallucci, Michele, Testar, Xavier, Ponzone, Alberto, Estivill, Xavier, Zorzano, Antonio, Palacin, Manuel, Nunes, Virginia, Zelante, Leopoldo
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
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Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801520/
https://ncbi.nlm.nih.gov/pubmed/7573036
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