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Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Zhang, Jie; Duo, Lina; Lin, Zhimiao; Wang, Huijun; Yin, Jinghua; Cao, Xu; Zhao, Jiahui; Dai, Lanlan; Liu, Xuanzhu; Zhang, Jianguo; Yang, Yong; Tang, Zhanli.
Afiliación
  • Zhang J; Department of Dermatology, Qilu Hospital of Shandong University (Qingdao), Qingdao 266035, China; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China.
  • Duo L; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China; Academy for Advanced Interdisciplinary Studies, Peking University, Beijing 100871, China.
  • Lin Z; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China.
  • Wang H; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China; Academy for Advanced Interdisciplinary Studies, Peking University,
  • Yin J; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China.
  • Cao X; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China.
  • Zhao J; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China.
  • Dai L; BGI-Shenzhen, Shenzhen 518083, China.
  • Liu X; BGI-Shenzhen, Shenzhen 518083, China.
  • Zhang J; BGI-Shenzhen, Shenzhen 518083, China.
  • Yang Y; Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China; Peking-Tsinghua Center for Life Sciences, Beijing 100871, China; Academy for Advanced Interdisciplinary Studies, Peking University,
  • Tang Z; Department of Dermatology, Qilu Hospital of Shandong University, Jinan 250012, China. Electronic address: tzldyx2010@sina.com.
Gene ; 566(1): 84-8, 2015 Jul 15.
Article en En | MEDLINE | ID: mdl-25895478
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Enfermedades Mitocondriales / Enfermedades del Cabello / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Enfermedades Mitocondriales / Enfermedades del Cabello / Pérdida Auditiva Sensorineural Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Gene Año: 2015 Tipo del documento: Article País de afiliación: China