Mutations inPOLR3AandPOLR3BEncoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy


Hirotomo Saitsu,Hitoshi Osaka,Masayuki Sasaki,Jun-ichi Takanashi,Keisuke Hamada,Akio Yamashita,Hidehiro Shibayama,Masaaki Shiina,Yukiko Kondo,Kiyomi Nishiyama,Yoshinori Tsurusaki,Noriko Miyake,Hiroshi Doi,Kazuhiro Ogata,Ken Inoue,Naomichi Matsumoto


The American Journal of Human Genetics




11 November 2011

Copyright © 2011, Elsevier

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