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Novel ALMS1 mutations in Chinese patients with Alström syndrome

PURPOSE: Alström syndrome (AS) is a rare monogenic autosomal recessively inherited disorder characterized by cone rod dystrophy and multiple organ dysfunction. Mutations in the Alström syndrome 1 (ALMS1) gene have been found to be causative for AS. The purpose of this study was to identify ALMS1 mut...

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Detalhes bibliográficos
Main Authors: Liang, Xiaofang, Li, Hui, Li, Huajin, Xu, Fei, Dong, Fangtian, Sui, Ruifang
Formato: Artigo
Idioma:Inglês
Publicado em: Molecular Vision 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3774572/
https://ncbi.nlm.nih.gov/pubmed/24049434
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