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Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome.
Shen, Tao; Gao, Jian-Mei; Shou, Tao; Li, Li; Zhang, Jin-Ping; Zhao, Qian; Yan, Xin-Min.
Afiliación
  • Shen T; Institute of Basic and Clinical Medicine, Key laboratory of Clinical Virology, Key Laboratory for Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Gao JM; Institute of Basic and Clinical Medicine, Key laboratory of Clinical Virology, Key Laboratory for Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Shou T; Oncology Department, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Li L; Institute of Basic and Clinical Medicine, Key laboratory of Clinical Virology, Key Laboratory for Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhang JP; Institute of Basic and Clinical Medicine, Key laboratory of Clinical Virology, Key Laboratory for Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Zhao Q; Institute of Basic and Clinical Medicine, Key laboratory of Clinical Virology, Key Laboratory for Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
  • Yan XM; Institute of Basic and Clinical Medicine, Key laboratory of Clinical Virology, Key Laboratory for Birth Defects and Genetic Diseases, the First People's Hospital of Yunnan Province, Kunming, Yunnan Province, China.
J Chin Med Assoc ; 82(2): 110-114, 2019 Feb.
Article en En | MEDLINE | ID: mdl-30839500
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Mutación del Sistema de Lectura / Síndrome de Bardet-Biedl Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Chin Med Assoc Asunto de la revista: MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas / Mutación del Sistema de Lectura / Síndrome de Bardet-Biedl Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adult / Female / Humans / Male Idioma: En Revista: J Chin Med Assoc Asunto de la revista: MEDICINA Año: 2019 Tipo del documento: Article País de afiliación: China