Recessive Mutations in POLR3B, Encoding the Second Largest Subunit of Pol III, Cause a Rare Hypomyelinating Leukodystrophy

Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinating leukodystrophy phenotypes. We uncovered in three cases without POLR3A mutation recessive mutations in P...

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Bibliografski detalji
Glavni autori: Tétreault, Martine, Choquet, Karine, Orcesi, Simona, Tonduti, Davide, Balottin, Umberto, Teichmann, Martin, Fribourg, Sébastien, Schiffmann, Raphael, Brais, Bernard, Vanderver, Adeline, Bernard, Geneviève
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2011
Teme:
Report
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3213403/
https://ncbi.nlm.nih.gov/pubmed/22036172
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.006
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