NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.

Xu, Yu; Zhang, Yong-Biao; Liang, Li-Jun; Tian, Jia-Li; Lin, Jin-Ming; Wang, Pan-Pan; Li, Rong-Hui; Gu, Ming-Liang; Gao, Zhan-Cheng

Xu, Yu; Zhang, Yong-Biao; Liang, Li-Jun; Tian, Jia-Li; Lin, Jin-Ming; Wang, Pan-Pan; Li, Rong-Hui; Gu, Ming-Liang; Gao, Zhan-Cheng.

Afiliação

Xu Y; Department of Pulmonary and Critical Care Medicine, Peking University People's Hospital, Beijing, 100044, People's Republic of China.
Zhang YB; Interdisciplinary Innovation Institute of Medicine and Engineering, Beijing Advanced Innovation Center for Big Data-Based Precision Medicine, School of Biological Science and Medical Engineering, Beihang University, Beijing, 100109, People's Republic of China.
Liang LJ; Department of Pulmonary and Critical Care Medicine, Peking University People's Hospital, Beijing, 100044, People's Republic of China.
Tian JL; Department of Pulmonary and Critical Care Medicine, Peking University People's Hospital, Beijing, 100044, People's Republic of China.
Lin JM; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, People's Republic of China.
Wang PP; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, People's Republic of China.
Li RH; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, People's Republic of China.
Gu ML; CAS Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, 100101, People's Republic of China. minglianggu@hotmail.com.
Gao ZC; Joint Laboratory for Translational Medicine Research, Beijing Institute of Genomics, Chinese Academy of Sciences and Liaocheng People's Hospital, Liaocheng City, 252000, Shandong Province, People's Republic of China. minglianggu@hotmail.com.

BMC Pulm Med ; 21(1): 197, 2021 Jun 10.

Article em En | MEDLINE | ID: mdl-34112136

Assuntos

Família; Proteínas de Ligação a Fator Solúvel Sensível a N-Etilmaleimida/genética; Telangiectasia Hemorrágica Hereditária/genética; China; Feminino; Humanos; Masculino; Mutação; Linhagem; Sequenciamento do Exoma

Palavras-chave

Hereditary hemorrhagic telangiectasia; NAPG; Whole-exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Telangiectasia Hemorrágica Hereditária / Família / Proteínas de Ligação a Fator Solúvel Sensível a N-Etilmaleimida Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: BMC Pulm Med Ano de publicação: 2021 Tipo de documento: Article

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