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Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu, L; Li, X B; Hu, Z H M; Zi, X H; Zhao, X; Xie, Y Z; Huang, S H X; Xia, K; Tang, B S; Zhang, R X.
Afiliación
  • Liu L; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Li XB; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Hu ZHM; National Key Lab of Medical Genetics, Central South University, Changsha, China.
  • Zi XH; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Zhao X; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Xie YZ; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Huang SHX; Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
  • Xia K; National Key Lab of Medical Genetics, Central South University, Changsha, China.
  • Tang BS; National Key Lab of Medical Genetics, Central South University, Changsha, China.
  • Zhang RX; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.
Clin Genet ; 91(6): 881-891, 2017 Jun.
Article en En | MEDLINE | ID: mdl-27804109
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Conexinas / Predisposición Genética a la Enfermedad Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Conexinas / Predisposición Genética a la Enfermedad Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies País/Región como asunto: Asia Idioma: En Revista: Clin Genet Año: 2017 Tipo del documento: Article