Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. [electronic resource]
- American journal of human genetics Nov 2011
- 644-51 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2011.10.003 doi
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