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

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

Abstract 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 intron...

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Bibliographic Details
Main Authors: Agustí Rodríguez‐Palmero, Agatha Schlüter, Edgard Verdura, Montserrat Ruiz, Juan José Martínez, Isabelle Gourlaouen, Chandran Ka, Ricardo Lobato, Carlos Casasnovas, Gérald Le Gac, Stéphane Fourcade, Aurora Pujol
Format: Article
Language:English
Published: Wiley 2020-09-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.51131

Internet

https://doi.org/10.1002/acn3.51131

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