Whole-exome sequencing identifies a novel ALMS1 mutation (p.Q2051X) in two Japanese brothers with Alström syndrome

PURPOSE: No mutations associated with Alström syndrome (AS), a rare autosomal recessive disease, have been reported in the Japanese population. The purpose of this study was to investigate the genetic and clinical features of two brothers with AS in a consanguineous Japanese family. METHODS: Whole-e...

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Main Authors: Katagiri, Satoshi, Yoshitake, Kazutoshi, Akahori, Masakazu, Hayashi, Takaaki, Furuno, Masaaki, Nishino, Jo, Ikeo, Kazuho, Tsuneoka, Hiroshi, Iwata, Takeshi
Format: Artigo
Language:Inglês
Published: Molecular Vision 2013
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3850975/
https://ncbi.nlm.nih.gov/pubmed/24319333
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