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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Zeng, Sheng; Zhang, Mei-Yun; Wang, Xue-Jing; Hu, Zheng-Mao; Li, Jin-Chen; Li, Nan; Wang, Jun-Ling; Liang, Fan; Yang, Qi; Liu, Qian; Fang, Li; Hao, Jun-Wei; Shi, Fu-Dong; Ding, Xue-Bing; Teng, Jun-Fang; Yin, Xiao-Meng; Jiang, Hong; Liao, Wei-Ping; Liu, Jing-Yu; Wang, Kai; Xia, Kun; Tang, Bei-Sha.
Afiliación
  • Zeng S; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Zhang MY; Department of Neurology, Tianjin Union Medical Center, Tianjin, China.
  • Wang XJ; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
  • Hu ZM; Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, Hunan, China.
  • Li JC; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Li N; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Wang JL; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, Hunan, China.
  • Liang F; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Yang Q; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
  • Liu Q; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
  • Fang L; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China.
  • Hao JW; GrandOmics Biosciences, Beijing, China.
  • Shi FD; GrandOmics Biosciences, Beijing, China.
  • Ding XB; Raymond G Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Teng JF; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Yin XM; Raymond G Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Jiang H; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Liao WP; Department of Neurology, General Hospital, Tianjin Medical University, Tianjin, China.
  • Liu JY; Department of Neurology, General Hospital, Tianjin Medical University, Tianjin, China.
  • Wang K; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
  • Xia K; Institute of Parkinson and Movement Disorder, Zhengzhou University, Zhengzhou, Hunan, China.
  • Tang BS; Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
J Med Genet ; 56(4): 265-270, 2019 04.
Article en En | MEDLINE | ID: mdl-30194086
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Fenotipo / Intrones / Secuencias Repetidas en Tándem / Estudios de Asociación Genética / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Linaje / Fenotipo / Intrones / Secuencias Repetidas en Tándem / Estudios de Asociación Genética / Proteínas del Tejido Nervioso Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Med Genet Año: 2019 Tipo del documento: Article País de afiliación: China Pais de publicación: Reino Unido