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

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To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis. Click to show full abstract

To identify the genetic cause in an adult ovarioleukodystrophy patient resistant to diagnosis.

Keywords: hypomorphic splice; novel hypomorphic; eif2b5 gene; splice variant; ovarioleukodystrophy; variant eif2b5

Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2020

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