A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.

Wang, Bo; Zheng, Zhaojing; Wang, Zhigang; Zhang, Xiaoqing; Yang, Haiou; Cai, Haiqing; Fu, Qihua

Wang, Bo; Zheng, Zhaojing; Wang, Zhigang; Zhang, Xiaoqing; Yang, Haiou; Cai, Haiqing; Fu, Qihua.

Afiliação

Wang B; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Zheng Z; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Wang Z; Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Zhang X; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Yang H; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Cai H; Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.
Fu Q; Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, P.R. China.

Am J Med Genet A ; 170A(1): 135-41, 2016 Jan.

Article em En | MEDLINE | ID: mdl-26374086

Assuntos

Artrogripose/genética; Povo Asiático/genética; Mutação de Sentido Incorreto/genética; Troponina I/genética; Sequência de Aminoácidos; Artrogripose/patologia; Pré-Escolar; Feminino; Humanos; Masculino; Modelos Moleculares; Dados de Sequência Molecular; Linhagem; Homologia de Sequência de Aminoácidos; Troponina I/química

Palavras-chave

TNNI2; distal arthrogryposis; mutation; whole exome sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrogripose / Troponina I / Mutação de Sentido Incorreto / Povo Asiático Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article

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