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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Detalles Bibliográficos
Autores principales: Liang, Xiaofang, Li, Hui, Li, Huajin, Xu, Fei, Dong, Fangtian, Sui, Ruifang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774572/
https://www.ncbi.nlm.nih.gov/pubmed/24049434

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774572/
https://www.ncbi.nlm.nih.gov/pubmed/24049434

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