Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy-Reference-Cited by-同舟云学术

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

Published:2011-11 Issue:5 Volume:89 Page:644-651
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Funder

Ministry of Health, Labour, and Welfare

Japan Science and Technology Agency

Ministry of Education, Culture, Sports, Science and Technology of Japan

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. Invited article: an MRI-based approach to the diagnosis of white matter disorders;Schiffmann;Neurology,2009

2. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia;Timmons;Neurology,2006

3. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination;Wolf;Neurology,2005

4. Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy;Wolf;Neuropediatrics,2007

5. New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum;van der Knaap;AJNR Am. J. Neuroradiol.,2002

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