Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
نویسندگان
چکیده
منابع مشابه
Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, using an integrated clinical and molecular strategy. We report variants in the ARX gene detected in ...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2015
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.133