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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...
Autores principales: | Coulombe, Benoit, Derksen, Alexa, La Piana, Roberta, Brais, Bernard, Gauthier, Marie-Soleil, Bernard, Geneviève |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Faculty Opinions Ltd
2021
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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 |
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