期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 89, 期 5, 页码 652-655出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2011.10.006
关键词
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资金
- Fondation sur les Leucodystrophies
- European Leukodystrophy Association
- Reseau de Medecine Genetique Appliquee
- Fonds de Recherche en Sante du Quebec
- Canadian Institute of Health Research
- National Human Genome Research Institute
- Myelin Disorders Bioregistry Project
- Agence Nationale de Recherche
- National Cancer Institute
- regional government of Aquitaine
- Ligue Contre le Cancer (equipe labellisee)
- La Ligue Contre le Cancer (Comite Dordogne)
- Inserm
Mutations in POLR3A encoding the largest subunit of RNA polymerase Ill (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 POLR3B, which codes for the second largest subunit of Pol III. Mutations in genes coding for Pol III subunits are a major cause of childhood-onset hypomyelinating leukodystrophies with prominent cerebellar dysfunction, oligodontia, and hypogonadotropic hypogonadism.
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