Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.

Kong, Xiangdong; Zhong, Xingjian; Liu, Lina; Cui, Siying; Yang, Yuxia; Kong, Lingrong

Kong, Xiangdong; Zhong, Xingjian; Liu, Lina; Cui, Siying; Yang, Yuxia; Kong, Lingrong.

Afiliação

Kong X; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China. kongxd@263.net.
Zhong X; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.
Liu L; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.
Cui S; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.
Yang Y; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.
Kong L; The Genetics and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University, No. 1, Jianshe East Rd, Erqi District, Zhengzhou, Henan Province, China.

BMC Med Genet ; 20(1): 139, 2019 08 14.

Article em En | MEDLINE | ID: mdl-31412794

Assuntos

Povo Asiático/genética; Testes Genéticos; Distrofia Muscular de Duchenne/diagnóstico; Distrofia Muscular de Duchenne/genética; Pré-Escolar; Éxons; Feminino; Estudos de Associação Genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Reação em Cadeia da Polimerase Multiplex; Mutação

Palavras-chave

Duchenne muscular dystrophy (DMD); Gene mutations; Multiplex ligation-dependent probe amplification (MLPA); Next-generation sequencing (NGS); Sanger sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Testes Genéticos / Distrofia Muscular de Duchenne / Povo Asiático Tipo de estudo: Guideline / Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: China

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