POLR3-related leukodystrophy: How do mutations affecting RNA polymerase III subunits cause hypomyelination?

Hypomyelinating leukodystrophies are a group of genetic disorders characterized by insufficient myelin deposition during development. A subset of hypomyelinating leukodystrophies, named RNA polymerase III (Pol III or POLR3)-related leukodystrophy or 4H (Hypomyelination, Hypodontia and Hypogonadotrop...

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Detalles Bibliográficos
Autores principales: Coulombe, Benoit, Derksen, Alexa, La Piana, Roberta, Brais, Bernard, Gauthier, Marie-Soleil, Bernard, Geneviève
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Faculty Opinions Ltd 2021
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894263/
https://www.ncbi.nlm.nih.gov/pubmed/33659930
http://dx.doi.org/10.12703/r/10-12

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7894263/
https://www.ncbi.nlm.nih.gov/pubmed/33659930
http://dx.doi.org/10.12703/r/10-12

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