Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

A small proportion of 4H (Hypomyelination, Hypodontia and Hypogonadotropic Hypogonadism) or RNA polymerase III (POLR3)-related leukodystrophy cases are negative for mutations in the previously identified causative genes POLR3A and POLR3B. Here we report eight of these cases carrying recessive mutati...

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Vydáno v:Nat Commun
Hlavní autoři: Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Pub. Group 2015
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4506509/
https://ncbi.nlm.nih.gov/pubmed/26151409
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms8623
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