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

Volume: 6, Issue: 1, Pages: 7623 - 7623
Published: Jul 7, 2015
Abstract
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 mutations in POLR1C, a gene encoding a shared POLR1 and POLR3 subunit, also mutated in some Treacher Collins syndrome (TCS) cases. Using shotgun proteomics...
Paper Details
Title
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Published Date
Jul 7, 2015
Volume
6
Issue
1
Pages
7623 - 7623
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