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Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Wang, Jian-Yi; Liu, Yi; Song, Li-Jie; Lv, Fang; Xu, Xiao-Jie; San, A; Wang, Jian; Yang, Huan-Ming; Yang, Zi-Ying; Jiang, Yan; Wang, Ou; Xia, Wei-Bo; Xing, Xiao-Ping; Li, Mei.
Afiliación
  • Wang JY; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Shuaifuyuan No. 1, Dongcheng District, Beijing, 100730, China.
  • Liu Y; Department of Cardiology, FuWai Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, 100037, China.
  • Song LJ; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Shuaifuyuan No. 1, Dongcheng District, Beijing, 100730, China.
  • Lv F; Binhai Genomics Institute, BGI-Tianjin, BGI-shenzhen, Tianjin, 300308, China.
  • Xu XJ; Tianjin Translational Genomics Center, BGI-Tianjin, BGI-shenzhen, Tianjin, 300308, China.
  • San A; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Shuaifuyuan No. 1, Dongcheng District, Beijing, 100730, China.
  • Wang J; Department of Endocrinology, Key Laboratory of Endocrinology of Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science, Shuaifuyuan No. 1, Dongcheng District, Beijing, 100730, China.
  • Yang HM; Binhai Genomics Institute, BGI-Tianjin, BGI-shenzhen, Tianjin, 300308, China.
  • Yang ZY; Tianjin Translational Genomics Center, BGI-Tianjin, BGI-shenzhen, Tianjin, 300308, China.
  • Jiang Y; BGI-shenzhen, Shenzhen, 518083, China.
  • Wang O; James D. Watson Institute of Genome Sciences, Hangzhou, 310058, China.
  • Xia WB; BGI-shenzhen, Shenzhen, 518083, China.
  • Xing XP; James D. Watson Institute of Genome Sciences, Hangzhou, 310058, China.
  • Li M; Binhai Genomics Institute, BGI-Tianjin, BGI-shenzhen, Tianjin, 300308, China.
Calcif Tissue Int ; 100(1): 55-66, 2017 01.
Article en En | MEDLINE | ID: mdl-27796462
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Serpinas / Predisposición Genética a la Enfermedad / Fracturas Óseas / Proteínas del Ojo / Mutación / Factores de Crecimiento Nervioso Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Calcif Tissue Int Año: 2017 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Serpinas / Predisposición Genética a la Enfermedad / Fracturas Óseas / Proteínas del Ojo / Mutación / Factores de Crecimiento Nervioso Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans / Male Idioma: En Revista: Calcif Tissue Int Año: 2017 Tipo del documento: Article País de afiliación: China Pais de publicación: Estados Unidos