ロード中...

A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia

OBJECTIVES: Ataxia telangiectasia (AT) is a rare autosomal recessive disorder caused by mutation in the Ataxia telangiectasia mutated (ATM) gene. This disorder is characterized by progressive cerebellar ataxia, telangiectasia, immunodeficiency and a predisposition to leukemia/lymphoma. In this study...

詳細記述

保存先:
書誌詳細
出版年:Iran J Child Neurol
主要な著者: SAEIDI, Kolsoum, SALEH GOHARI, Nasrollah, MANSOURI NEJAD, Seyed Ebrahim
フォーマット: Artigo
言語:Inglês
出版事項: Shahid Beheshti University of Medical Sciences 2018
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6160626/
https://ncbi.nlm.nih.gov/pubmed/30279714
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!