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Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.
Liu, Limin; Pang, QianQian; Jiang, Yan; Li, Mei; Wang, Ou; Xia, Weibo.
Afiliação
  • Liu L; Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China.
  • Pang Q; Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, North LiShi Road, Beijing, 100037, China.
  • Jiang Y; Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China.
  • Li M; Department of Endocrinology, The First Affiliated Hospital of ShanXi Medical University, Taiyuan, 030001, China.
  • Wang O; Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China.
  • Xia W; Key Laboratory of Endocrinology, Department of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Shuaifuyuan No. 1, Wangfujing, Dongcheng District, Beijing, 100730, China.
Eur Spine J ; 25(9): 2967-74, 2016 09.
Article em En | MEDLINE | ID: mdl-27059630
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Mutação de Sentido Incorreto / Colágeno Tipo II / Povo Asiático Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Mutação de Sentido Incorreto / Colágeno Tipo II / Povo Asiático Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article