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Revealing diverse alternative splicing variants of the highly homologous SMN1 and SMN2 genes by targeted long-read sequencing.
Dai, Mengyao; Xu, Yan; Sun, Yu; Xiao, Bing; Ying, Xiaomin; Liu, Yu; Jiang, Wenting; Zhang, Jingmin; Liu, Xiaoqing; Ji, Xing.
Afiliação
  • Dai M; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Xu Y; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
  • Sun Y; National Research Center for Translational Medicine, National Key Scientific Infrastructure for Translational Medicine (Shanghai), Shanghai Jiaotong University, Shanghai, China.
  • Xiao B; National Clinical Research Centre for Metabolic Diseases, State Key Laboratory of Medical Genomics, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Institute for Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, Chin
  • Ying X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Liu Y; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
  • Jiang W; Department of Reproductive Genetics, International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Zhang J; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
  • Liu X; Molecular Genetics Group, Shanghai Institute for Paediatric Research, Shanghai, China.
  • Ji X; Department of Paediatric Endocrinology/Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Mol Genet Genomics ; 297(4): 1039-1048, 2022 Jul.
Article em En | MEDLINE | ID: mdl-35612622
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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 / Proteína 2 de Sobrevivência do Neurônio Motor Limite: Humans Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China
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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 / Proteína 2 de Sobrevivência do Neurônio Motor Limite: Humans Idioma: En Revista: Mol Genet Genomics Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: China