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The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Feng, Yanming; Ge, Xiaoyan; Meng, Linyan; Scull, Jennifer; Li, Jianli; Tian, Xia; Zhang, Tao; Jin, Weihong; Cheng, Hanyin; Wang, Xia; Tokita, Mari; Liu, Pengfei; Mei, Hui; Wang, Yue; Li, Fangyuan; Schmitt, Eric S; Zhang, Wei V; Muzny, Donna; Wen, Shu; Chen, Zhao; Yang, Yaping; Beaudet, Arthur L; Liu, Xiaoming; Eng, Christine M; Xia, Fan; Wong, Lee-Jun; Zhang, Jinglan.
Afiliação
  • Feng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Ge X; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Scull J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Li J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Tian X; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Zhang T; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Jin W; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Cheng H; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Wang X; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Tokita M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Mei H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Wang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Li F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Schmitt ES; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Zhang WV; Baylor Genetics Laboratories, Houston, Texas, USA.
  • Muzny D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Wen S; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA.
  • Chen Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Yang Y; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
  • Beaudet AL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Liu X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Eng CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Wong LJ; Current affiliation: AmCare Genomics Lab, Guangzhou, China.
  • Zhang J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Genet Med ; 19(8): 936-944, 2017 08.
Article em En | MEDLINE | ID: mdl-28125085
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteína 1 de Sobrevivência do Neurônio Motor / Sequenciamento de Nucleotídeos em Larga Escala / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Evaluation_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Proteína 1 de Sobrevivência do Neurônio Motor / Sequenciamento de Nucleotídeos em Larga Escala / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Evaluation_studies / Screening_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article