Cargando…
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...
| Autores principales: | , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480926/ https://www.ncbi.nlm.nih.gov/pubmed/33245593 http://dx.doi.org/10.1002/acn3.51131 |