A novel hypomorphic splice variant in EIF2B5 gene is associated with mild ovarioleukodystrophy

OBJECTIVE: To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. METHODS: We applied whole‐exome sequencing (WES) to a vanishing white matter disease patient associated with premature ovarian failure at 26 years of age. We functionally tested an intronic vari...

詳細記述

保存先:
書誌詳細
出版年:Ann Clin Transl Neurol
主要な著者: Rodríguez‐Palmero, Agustí, Schlüter, Agatha, Verdura, Edgard, Ruiz, Montserrat, Martínez, Juan José, Gourlaouen, Isabelle, Ka, Chandran, Lobato, Ricardo, Casasnovas, Carlos, Le Gac, Gérald, Fourcade, Stéphane, Pujol, Aurora
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2020
主題:
Research Articles
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7480926/
https://ncbi.nlm.nih.gov/pubmed/33245593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.51131
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