New insights into cystinuria: 40 new mutations, genotype–phenotype correlation, and digenic inheritance causing partial phenotype

Objective: To clarify the genotype–phenotype correlation and elucidate the role of digenic inheritance in cystinuria. Methods: 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion o...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Font-Llitjos, M, Jimenez-Vidal, M, Bisceglia, L, Di, P, de Sanctis, L, Rousaud, F, Zelante, L, Palacin, M, Nunes, V
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
Assuntos:
Medical Genetics in Practice
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735913/
https://ncbi.nlm.nih.gov/pubmed/15635077
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.022244
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados