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Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.
Ju, Mingyan; Bai, Xue; Zhang, Tianke; Lin, Yunshou; Yang, Li; Zhou, Huaiyu; Chang, Xiaoli; Guan, Shizhen; Ren, Xiuzhi; Li, Keqiu; Wang, Yi; Li, Guang.
Afiliação
  • Ju M; Department of Genetics, Tianjin Medical University, Tianjin, 300070, People's Republic of China.
  • Bai X; Department of Medical Laboratory, Tianjin Hospital, Tianjin, 300000, People's Republic of China.
  • Zhang T; Colorectal Surgery, Tianjin People's Hospital, Tianjin, 300000, People's Republic of China.
  • Lin Y; School of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, People's Republic of China.
  • Yang L; School of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, People's Republic of China.
  • Zhou H; School of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, People's Republic of China.
  • Chang X; Department of Medical Laboratory, Tianjin Hospital, Tianjin, 300000, People's Republic of China.
  • Guan S; Department of Medical Laboratory, Tianjin Hospital, Tianjin, 300000, People's Republic of China.
  • Ren X; Orthopedic Ward III, Wuqing People's Hospital, Tianjin, 300000, People's Republic of China.
  • Li K; Department of Genetics, Tianjin Medical University, Tianjin, 300070, People's Republic of China.
  • Wang Y; Department of Medical Laboratory, Tianjin Hospital, Tianjin, 300000, People's Republic of China.
  • Li G; Department of Genetics, Tianjin Medical University, Tianjin, 300070, People's Republic of China. lig@tmu.edu.cn.
J Bone Miner Metab ; 38(2): 188-197, 2020 Mar.
Article em En | MEDLINE | ID: mdl-31414283
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Testes Genéticos / Colágeno Tipo I / Povo Asiático / Mutação / Desnaturação de Ácido Nucleico Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Testes Genéticos / Colágeno Tipo I / Povo Asiático / Mutação / Desnaturação de Ácido Nucleico Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2020 Tipo de documento: Article