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...

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Bibliografiske detaljer
Main Authors: Font-Llitjos, M, Jimenez-Vidal, M, Bisceglia, L, Di, P, de Sanctis, L, Rousaud, F, Zelante, L, Palacin, M, Nunes, V
Format: Artigo
Sprog:Inglês
Udgivet: BMJ Group 2005
Fag:
Medical Genetics in Practice
Online adgang: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
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