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

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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Bibliographic Details
Main Authors: 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
Format: Online
Language:English
Published: Nature Pub. Group 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506509/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4506509/

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