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Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants.
Lv, Tingxia; Zhang, Wei; Xu, Anjian; Li, Yanmeng; Zhou, Donghu; Zhang, Bei; Li, Xiaojin; Zhao, Xinyan; Wang, Yu; Wang, Xiaoming; Duan, Weijia; Wang, Qianyi; Xu, Hexiang; Zheng, JiShun; Zhao, Rongrong; Zhu, Longdong; Dong, Yuwei; Lu, Lungen; Chen, Yongpeng; Long, Jiang; Zheng, Sujun; Wang, Wei; You, Hong; Jia, Jidong; Ou, Xiaojuan; Huang, Jian.
Afiliação
  • Lv T; Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Zhang W; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Xu A; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Li Y; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Zhou D; Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Zhang B; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Li X; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Zhao X; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Wang Y; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Wang X; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Duan W; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Wang Q; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Xu H; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Zheng J; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Zhao R; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Zhu L; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Dong Y; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Lu L; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Chen Y; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Long J; Experimental Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Zheng S; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Wang W; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • You H; Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
  • Jia J; Clinical Research Center for Rare Liver Disease, Capital Medical University, Beijing, China.
  • Ou X; Liver Research Center, National Clinical Research Center for Digestive Diseases, Beijing, China.
  • Huang J; Beijing Key Laboratory of Translational Medicine on Liver Cirrhosis, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
J Med Genet ; 55(10): 650-660, 2018 10.
Article em En | MEDLINE | ID: mdl-30166352

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Sinais Direcionadores de Proteínas / Sobrecarga de Ferro / Proteínas Smad / Proteínas Ligadas por GPI / Proteína da Hemocromatose / Hemocromatose Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Sinais Direcionadores de Proteínas / Sobrecarga de Ferro / Proteínas Smad / Proteínas Ligadas por GPI / Proteína da Hemocromatose / Hemocromatose Tipo de estudo: Clinical_trials / Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Asia Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China País de publicação: Reino Unido