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A novel frameshift mutation of the endoglin(ENG) gene causes hereditary hemorrhagic telangiectasia in a Chinese family.
Li, Peng; Gao, Chunhai; Wei, Yuda; Zhao, Xiangyu; Sun, Dezhong; Lin, Liqiang; Yang, Yangyang; Shao, Qiang; Lv, Huaiqing.
Afiliação
  • Li P; School of Clinical Medicine, Weifang Medical University, Weifang, China.
  • Gao C; Department of Laboratory Medicine, Linyi People's Hospital, Linyi, China.
  • Wei Y; Key Laboratory for Laboratory Medicine of Linyi City, Linyi People's Hospital, Linyi, China.
  • Zhao X; Department of Laboratory Medicine, Linyi People's Hospital, Linyi, China.
  • Sun D; Key Laboratory for Laboratory Medicine of Linyi City, Linyi People's Hospital, Linyi, China.
  • Lin L; Department of Laboratory Medicine, Linyi People's Hospital, Linyi, China. xiangyuzhao@126.com.
  • Yang Y; Key Laboratory for Laboratory Medicine of Linyi City, Linyi People's Hospital, Linyi, China. xiangyuzhao@126.com.
  • Shao Q; Department of Otorhinolaryngology, Linyi People's Hospital, Linyi, China.
  • Lv H; Department of Otorhinolaryngology, Linyi People's Hospital, Linyi, China.
Eur Arch Otorhinolaryngol ; 281(1): 237-243, 2024 Jan.
Article em En | MEDLINE | ID: mdl-37603052
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Mutação da Fase de Leitura Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Mutação da Fase de Leitura Tipo de estudo: Etiology_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2024 Tipo de documento: Article