Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.

Huang, Limin; Li, Liyan; Lin, Sheng; Chen, Juanjuan; Li, Kun; Fan, Dongmei; Jin, Wangjie; Li, Yihong; Yang, Xu; Xiong, Yufeng; Li, Fenxia; Yang, Xuexi; Li, Ming; Li, Qiang

Huang, Limin; Li, Liyan; Lin, Sheng; Chen, Juanjuan; Li, Kun; Fan, Dongmei; Jin, Wangjie; Li, Yihong; Yang, Xu; Xiong, Yufeng; Li, Fenxia; Yang, Xuexi; Li, Ming; Li, Qiang.

Afiliação

Huang L; Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
Li L; Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Lin S; Laboratory of Molecular Medicine, Shenzhen Health Development Research Center, Shenzhen, China.
Chen J; Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
Li K; Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
Fan D; Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
Jin W; Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Li Y; Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Yang X; Clinical Innovation & Research Center (CIRC), Shenzhen Hospital of Southern Medical University, Shenzhen, China.
Xiong Y; Department of Clinical Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.
Li F; Technology Center of Prenatal Diagnosis and Genetic Diseases Diagnosis, Department of Gynecology and Obstetrics, Nanfang Hospital, Southern Medical University, Guangzhou, China.
Yang X; Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
Li M; Institute of Antibody Engineering, School of Laboratory Medicine and Biotechnology, Southern Medical University, Guangzhou, China.
Li Q; The Department of Laboratory Medicine, Nanfang Hospital, Southern Medical University, Guangzhou, China.

Mol Genet Genomic Med ; 8(11): e1482, 2020 11.

Article em En | MEDLINE | ID: mdl-32875744

Assuntos

Fator IX/genética; Frequência do Gene; Hemofilia B/genética; China; Códon sem Sentido; Fator IX/química; Deleção de Genes; Humanos; Masculino; Mosaicismo; Mutação de Sentido Incorreto; Linhagem; Domínios Proteicos; Splicing de RNA

Palavras-chave

F9; hemophilia B; molecular diagnosis; next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator IX / Hemofilia B / Frequência do Gene Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2020 Tipo de documento: Article País de afiliação: China País de publicação: Estados Unidos

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