Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. [electronic resource]
Producer: 20120221Description: 644-51 p. digitalISSN:- 1537-6605
- Adolescent
- Adult
- Base Sequence
- Codon, Nonsense
- Corpus Callosum -- pathology
- Exome -- genetics
- Female
- Genes, Recessive -- genetics
- Genetic Predisposition to Disease -- genetics
- Hereditary Central Nervous System Demyelinating Diseases -- genetics
- Humans
- Male
- Models, Molecular
- Molecular Sequence Data
- Mutation, Missense
- Nonsense Mediated mRNA Decay -- genetics
- Pedigree
- RNA Polymerase III -- genetics
- RNA Splice Sites
- Reverse Transcriptase Polymerase Chain Reaction
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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