Art

J-GLOBAL ID：201302255655575963   Reference number：13A1069660

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

β-チュブリン遺伝子TUBB4Aにおけるde novo突然変異は大脳基底核と小脳の萎縮を伴う白質脳症ミエリン形成減少に帰着する

Author (21)： SIMONS Cas (Univ. Queensland, QLD, AUS) ,  CRAWFORD Joanna (Univ. Queensland, QLD, AUS) ,  RU Kelin (Univ. Queensland, QLD, AUS) ,  TAFT Ryan J. (Univ. Queensland, QLD, AUS) ,  WOLF Nicole I. (VU Univ. Medical Center, Amsterdam, NLD) ,  VAN DER KNAAP Marjo S. (VU Univ. Medical Center, Amsterdam, NLD) ,  MCNEIL Nathan (Baylor Res. Inst., TX, USA) ,  SCHIFFMANN Raphael (Baylor Res. Inst., TX, USA) ,  CALDOVIC Ljubica (Children’s National Medical Center, Washington, DC, USA) ,  DEVANEY Joseph M. (Children’s National Medical Center, Washington, DC, USA) ,  TAKANOHASHI Asako (Children’s National Medical Center, Washington, DC, USA) ,  SCHMIDT Johanna L. (Children’s National Medical Center, Washington, DC, USA) ,  VANDERVER Adeline (Children’s National Medical Center, Washington, DC, USA) ,  GRIMMOND Sean M. (Univ. Queensland, QLD, AUS) ,  MILLER David (Univ. Queensland, QLD, AUS) ,  TONDUTI Davide (Univ. Pavia, Pavia, ITA) ,  CHUDNOW Robert S. (Texas Child Neurology, TX, USA) ,  VAN COSTER Rudy (Ghent Univ. Hospital, Ghent, BEL) ,  LAGAE Lieven (Univ. Hospitals Leuven, Leuven, BEL) ,  KISLER Jill (Newcastle Upon Tyne Hospitals National Health Serv. Foundation Trust, Newcastle-upon Tyne, GBR) ,  SPERNER Juergen (Child Neurology Serv., Luebeck, DEU)
Material： American Journal of Human Genetics  (AJHG)
Volume： 92  Issue： 5  Page： 767-773  Publication year： 2013 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Terms in the title (7)： チュブリン ,  遺伝子 ,  大脳基底核 ,  小脳 ,  萎縮 ,  白質脳症 ,  ミエリン形成減少