A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene.

Liu, Chang; Deng, Huiting; Yang, Cheng; Li, Xixi; Zhu, Yanrong; Chen, Xiangfa; Li, Hui; Li, Shuo; Cui, Hao; Zhang, Xiaoyan; Tan, Xiaoyue; Li, Dong; Zhang, Zhujun

Liu, Chang; Deng, Huiting; Yang, Cheng; Li, Xixi; Zhu, Yanrong; Chen, Xiangfa; Li, Hui; Li, Shuo; Cui, Hao; Zhang, Xiaoyan; Tan, Xiaoyue; Li, Dong; Zhang, Zhujun.

Afiliação

Liu C; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Deng H; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Yang C; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Li X; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Zhu Y; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Chen X; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Li H; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Li S; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Cui H; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Zhang X; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Tan X; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.
Li D; Department of Neurology, Tianjin Children's Hospital, Tianjin, China.
Zhang Z; Department of Pathology, School of Medicine, Nankai University, Tianjin, China.

J Clin Lab Anal ; 32(8): e22575, 2018 Oct.

Article em En | MEDLINE | ID: mdl-29802662

Assuntos

Distrofina/genética; Reação em Cadeia da Polimerase Multiplex/métodos; Distrofia Muscular de Duchenne/genética; Adolescente; Éxons/genética; Deleção de Genes; Humanos; Masculino

Palavras-chave

duchenne muscular dystrophy; multiplex PCR; multiplex ligation-dependent probe amplification; next-generation sequencing; partial exonic deletion

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofina / Distrofia Muscular de Duchenne / Reação em Cadeia da Polimerase Multiplex Limite: Adolescent / Humans / Male Idioma: En Revista: J Clin Lab Anal Assunto da revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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