TY  - GEN
AU  - Saitsu,Hirotomo
AU  - Osaka,Hitoshi
AU  - Sasaki,Masayuki
AU  - Takanashi,Jun-Ichi
AU  - Hamada,Keisuke
AU  - Yamashita,Akio
AU  - Shibayama,Hidehiro
AU  - Shiina,Masaaki
AU  - Kondo,Yukiko
AU  - Nishiyama,Kiyomi
AU  - Tsurusaki,Yoshinori
AU  - Miyake,Noriko
AU  - Doi,Hiroshi
AU  - Ogata,Kazuhiro
AU  - Inoue,Ken
AU  - Matsumoto,Naomichi
TI  - Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy
SN  - 1537-6605
PY  - 2012///0221
KW  - Adolescent
KW  - Adult
KW  - Base Sequence
KW  - Codon, Nonsense
KW  - Corpus Callosum
KW  - pathology
KW  - Exome
KW  - genetics
KW  - Female
KW  - Genes, Recessive
KW  - Genetic Predisposition to Disease
KW  - Hereditary Central Nervous System Demyelinating Diseases
KW  - Humans
KW  - Male
KW  - Models, Molecular
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Nonsense Mediated mRNA Decay
KW  - Pedigree
KW  - RNA Polymerase III
KW  - RNA Splice Sites
KW  - Reverse Transcriptase Polymerase Chain Reaction
KW  - Sequence Analysis, DNA
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ajhg.2011.10.003
ER  -