Article
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
Brain & development - 1 Apr 2014
Shimojima Keiko, Shimada Shino, Tamasaki Akiko, Akaboshi Shinjiro, Komoike Yuta, Saito Akira, Furukawa Toru, Yamamoto Toshiyuki
Abstract excerpt
OBJECTIVE: Congenital white matter disorders are a heterogeneous group of hypomyelination disorders affecting the white matter of the brain. Recently, mutations in the genes encoding the subunits of RNA polymerase III (Pol III), POLR3A and POLR3B, have been identified as new genetic causes for hypomyelinating disorders. METHOD: Whole-exome sequencing was applied to identify responsible gene mutations in a...
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