A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.

Yi, Sheng; Yang, Qi; Zuo, Yangjin; Li, Mengting; Luo, Jingsi; Qin, Zailong; Zhang, Qinle; Li, Meng; Huang, Limei; Lu, Yingchi; Feng, Shihan; Fan, Xin

Yi, Sheng; Yang, Qi; Zuo, Yangjin; Li, Mengting; Luo, Jingsi; Qin, Zailong; Zhang, Qinle; Li, Meng; Huang, Limei; Lu, Yingchi; Feng, Shihan; Fan, Xin.

Afiliação

Yi S; Laboratory of Genetics and Metabolism.
Yang Q; Laboratory of Genetics and Metabolism.
Zuo Y; Laboratory of Genetics and Metabolism.
Li M; Laboratory of Genetics and Metabolism.
Luo J; Laboratory of Genetics and Metabolism.
Qin Z; Laboratory of Genetics and Metabolism.
Zhang Q; Laboratory of Genetics and Metabolism.
Li M; Prenatal Clinic, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, People's Republic of China.
Huang L; Laboratory of Genetics and Metabolism.
Lu Y; Laboratory of Genetics and Metabolism.
Feng S; Laboratory of Genetics and Metabolism.
Fan X; Laboratory of Genetics and Metabolism.

Blood Coagul Fibrinolysis ; 31(2): 121-126, 2020 Mar.

Article em En | MEDLINE | ID: mdl-31904612

Assuntos

Fator IX/genética; Hemofilia B/genética; Mutação de Sentido Incorreto; Adulto; Criança; Saúde da Família; Hemizigoto; Hemofilia B/etiologia; Humanos; Masculino; Tempo de Tromboplastina Parcial; Fenótipo

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator IX / Hemofilia B / Mutação de Sentido Incorreto Tipo de estudo: Etiology_studies Limite: Adult / Child / Humans / Male Idioma: En Revista: Blood Coagul Fibrinolysis Assunto da revista: ANGIOLOGIA / HEMATOLOGIA Ano de publicação: 2020 Tipo de documento: Article País de publicação: Reino Unido

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