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A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Hu, Jing; Li, Lu-Jiao; Zheng, Wen-Bin; Zhao, Di-Chen; Wang, Ou; Jiang, Yan; Xing, Xiao-Ping; Li, Mei; Xia, Weibo.
Afiliación
  • Hu J; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li LJ; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Zheng WB; Department of Endocrinology, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Zhao DC; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Wang O; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Jiang Y; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Xing XP; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Li M; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
  • Xia W; Department of Endocrinology, National Health Commission Key Laboratory of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Mol Genet Genomic Med ; 8(12): e1525, 2020 12.
Article en En | MEDLINE | ID: mdl-33166085
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteogénesis Imperfecta / Glicoproteínas de Membrana / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Microfilamentos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 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: Osteogénesis Imperfecta / Glicoproteínas de Membrana / Enfermedades Genéticas Ligadas al Cromosoma X / Proteínas de Microfilamentos Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Child / Humans / Male Idioma: En Revista: Mol Genet Genomic Med Año: 2020 Tipo del documento: Article País de afiliación: China