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A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.
Yi, Haoan; Zha, Xu; Zhu, Yuechun; Lv, Jin; Hu, Shouzhi; Kong, Yanbo; Wu, Guojiu; Yang, Yuling; He, Yongshu.
Afiliación
  • Yi H; Department of Cell Biology and Medical Genetics, Kunming Medical University, Kunming, Yunnan Province, China.
  • Zha X; Department of Ophthalmology, the 2nd Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.
  • Zhu Y; Department of Biochemstry and Molecular Biology, Kunming Medical University, Kunming, Yunnan Province, China.
  • Lv J; Department of Ophthalmology, the First People's Hospital of Qujing City, Qujing, Yunnan Province, China.
  • Hu S; Department of Ophthalmology, the First People's Hospital of Qujing City, Qujing, Yunnan Province, China.
  • Kong Y; Department of Ophthalmology, the 2nd Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.
  • Wu G; Department of Ophthalmology, the 2nd Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.
  • Yang Y; Department of Cell Biology and Medical Genetics, Kunming Medical University, Kunming, Yunnan Province, China.
  • He Y; Department of Cell Biology and Medical Genetics, Kunming Medical University, Kunming, Yunnan Province, China. yongshuhe@hotmail.com.
J Hum Genet ; 64(7): 681-687, 2019 Jul.
Article en En | MEDLINE | ID: mdl-31019231
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Codón sin Sentido / Síndrome de Weill-Marchesani / Proteínas ADAMTS Tipo de estudio: Diagnostic_studies / Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Codón sin Sentido / Síndrome de Weill-Marchesani / Proteínas ADAMTS Tipo de estudio: Diagnostic_studies / Prognostic_studies País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article