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Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification.
Shi, Chang-He; Zhang, Shuo; Yang, Zhi-Hua; Liu, Yu-Tao; Li, Yu-Sheng; Li, Zhuo; Hu, Zheng-Wei; Xu, Yu-Ming.
Afiliación
  • Shi CH; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
  • Zhang S; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou 450052, Henan, China.
  • Yang ZH; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
  • Liu YT; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
  • Li YS; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
  • Li Z; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China.
  • Hu ZW; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China; Academy of Medical Sciences, Zhengzhou University, Zhengzhou 450052, Henan, China.
  • Xu YM; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, 450000 Henan, China. Electronic address: xuyuming@zzu.edu.cn.
Brain Dev ; 41(1): 29-35, 2019 Jan.
Article en En | MEDLINE | ID: mdl-30100227
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calcinosis / Mutación Missense / 1-Alquil-2-acetilglicerofosfocolina Esterasa / Lisencefalia / Proteínas Asociadas a Microtúbulos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Dev Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Calcinosis / Mutación Missense / 1-Alquil-2-acetilglicerofosfocolina Esterasa / Lisencefalia / Proteínas Asociadas a Microtúbulos Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Brain Dev Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Países Bajos