Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy

Congenital hypomyelinating disorders are a heterogeneous group of inherited leukoencephalopathies characterized by abnormal myelin formation. We have recently reported a hypomyelinating syndrome characterized by diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus ca...

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Auteurs principaux: Saitsu, Hirotomo, Osaka, Hitoshi, Sasaki, Masayuki, Takanashi, Jun-ichi, Hamada, Keisuke, Yamashita, Akio, Shibayama, Hidehiro, Shiina, Masaaki, Kondo, Yukiko, Nishiyama, Kiyomi, Tsurusaki, Yoshinori, Miyake, Noriko, Doi, Hiroshi, Ogata, Kazuhiro, Inoue, Ken, Matsumoto, Naomichi
Format: Artigo
Langue:Inglês
Publié: Elsevier 2011
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3213392/
https://ncbi.nlm.nih.gov/pubmed/22036171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.10.003
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