Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.

Jiang, Yu; Pan, Jingxin; Guo, Dongwei; Zhang, Wei; Xie, Jie; Fang, Zishui; Guo, Chunmiao; Fang, Qun; Jiang, Weiying; Guo, Yibin

Jiang, Yu; Pan, Jingxin; Guo, Dongwei; Zhang, Wei; Xie, Jie; Fang, Zishui; Guo, Chunmiao; Fang, Qun; Jiang, Weiying; Guo, Yibin.

Afiliação

Jiang Y; Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Pan J; Department of Internal Medicine, The Second Affiliated Hospital, Fujian Medical University, Quanzhou 362000, China.
Guo D; Clinical Medicine, Grade 2014, Medical College, Xiamen University, Xiamen 361102, China.
Zhang W; Department of Human and Molecular Genetics, BCM (Baylor College of Medicine), One Baylor Plaza, Nab 2015, Houston, TX 77030, USA; AmCare Genomics Laboratory, Guangzhou 510300, China.
Xie J; Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Fang Z; Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Guo C; Department of Internal Medicine, The Second Affiliated Hospital, Fujian Medical University, Quanzhou 362000, China.
Fang Q; Fetal Medicine Center, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, China.
Jiang W; Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China.
Guo Y; Department of Medical Genetics, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou 510080, China. Electronic address: guoyibin@mail.sysu.edu.cn.

Clin Chim Acta ; 469: 111-118, 2017 Jun.

Article em En | MEDLINE | ID: mdl-28242392

Assuntos

Ciclofilinas/genética; Mutação; Osteogênese Imperfeita/genética; Linhagem; Sequência de Aminoácidos; Animais; Povo Asiático/genética; Sequência de Bases; Sequência Conservada; Ciclofilinas/química; Feminino; Regulação da Expressão Gênica; Genótipo; Humanos; Masculino; Fenótipo; Sequenciamento do Exoma

Palavras-chave

Next-generation sequencing; Novel mutation; Osteogenesis imperfecta type IX; PPIB gene; Pathogenic identification

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Osteogênese Imperfeita / Linhagem / Ciclofilinas / Mutação Limite: Animals / Female / Humans / Male Idioma: En Revista: Clin Chim Acta Ano de publicação: 2017 Tipo de documento: Article

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