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NGS-based spinal muscular atrophy carrier screening of 10,585 diverse couples in China: a pan-ethnic study.
Zhao, Sumin; Wang, Wanyang; Wang, Yaoshen; Han, Rui; Fan, Chunna; Ni, Peixiang; Guo, Fengyu; Zeng, Fanwei; Yang, Qiaona; Yang, Yun; Sun, Yan; Zhang, Xinhua; Chen, Yan; Zhu, Baosheng; Cai, Wangwei; Chen, Shaoke; Cai, Ren; Guo, Xiaoling; Zhang, Chonglin; Zhou, Yuqiu; Huang, Shuodan; Liu, Yanhui; Chen, Biyan; Yan, Shanhuo; Chen, Yajun; Ding, Hongmei; Shang, Xuan; Xu, Xiangmin; Sun, Jun; Peng, Zhiyu.
Afiliação
  • Zhao S; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Wang W; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Wang Y; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Han R; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Fan C; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Ni P; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Guo F; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Zeng F; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Yang Q; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Yang Y; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Sun Y; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Zhang X; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Chen Y; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Zhu B; Binhai Genomics Institute, BGI-Tianjin, BGI-Shenzhen, 300308, Tianjin, China.
  • Cai W; BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China.
  • Chen S; BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China.
  • Cai R; BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China.
  • Guo X; BGI Genomics, BGI-Shenzhen, 518083, Shenzhen, China.
  • Zhang C; James D. Watson Institute of Genome Science, 310008, Hangzhou, China.
  • Zhou Y; Department of Hematology, 303rd Hospital of the People's Liberation Army, Nanning, Guangxi, China.
  • Huang S; The Second Department of Pediatrics, Affiliated Hospital of Zunyi Medical College, Zunyi, Guizhou, China.
  • Liu Y; Nation Health and Family Planning Commission Key Laboratory For Preconception and Health Birth in Western China, The First People's Hospital of Yunnan Province, Kunming University of Science and Technology, Kunming, China.
  • Chen B; Department of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, Hainan, China.
  • Yan S; Department of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, Guangxi, China.
  • Chen Y; Department of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi, China.
  • Ding H; Maternity and Child Health Care Hospital of Foshan City, Foshan, Guangdong, China.
  • Shang X; Guilin Women and Children Health Care Hospital, Guilin, Guangxi, China.
  • Xu X; Department of Clinical Laboratory, Zhuhai Municipal Maternal and Child Healthcare Hospital, Zhuhai Institute of Medical Genetics, Zhuhai, Guangdong, China.
  • Sun J; Maternal and Child Health Hospital in Meizhou, Meizhou, Guangdong, China.
  • Peng Z; Department of Prenatal Diagnosis Center, Dong Guan Maternal and Child Health Hospital, Dongguan, Guangdong, China.
Eur J Hum Genet ; 29(1): 194-204, 2021 01.
Article em En | MEDLINE | ID: mdl-32884118

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Etnicidade / Frequência do Gene / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Atrofia Muscular Espinal / Etnicidade / Frequência do Gene / Triagem de Portadores Genéticos Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China