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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Liang, Xiaofang, Li, Hui, Li, Huajin, Xu, Fei, Dong, Fangtian, Sui, Ruifang
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Molecular Vision 2013
Gaiak:
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC3774572/
https://ncbi.nlm.nih.gov/pubmed/24049434
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