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Short amplicon reverse transcription-polymerase chain reaction detects aberrant splicing in genes with low expression in blood missed by ribonucleic acid sequencing analysis for clinical diagnosis.
Wai, Htoo A; Constable, Matthew; Drewes, Cosima; Davies, Ian C; Svobodova, Eliska; Dempsey, Esther; Saggar, Anand; Homfray, Tessa; Mansour, Sahar; Douzgou, Sofia; Barr, Kate; Mercer, Catherine; Hunt, David; Douglas, Andrew G L; Baralle, Diana.
Afiliação
  • Wai HA; Human Development and Health, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK.
  • Constable M; Human Development and Health, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK.
  • Drewes C; Human Development and Health, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK.
  • Davies IC; Human Development and Health, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK.
  • Svobodova E; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Dempsey E; Department of Clinical Genetics, St George's University of London, London, UK.
  • Saggar A; Department of Clinical Genetics, St George's University of London, London, UK.
  • Homfray T; Department of Clinical Genetics, St George's University of London, London, UK.
  • Mansour S; Department of Clinical Genetics, St George's University of London, London, UK.
  • Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK.
  • Barr K; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.
  • Mercer C; Bristol Regional Clinical Genetics Service, St Michael's Hospital, Bristol, UK.
  • Hunt D; Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic.
  • Douglas AGL; Human Development and Health, Faculty of Medicine, Southampton General Hospital, University of Southampton, Southampton, UK.
  • Baralle D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
Hum Mutat ; 43(7): 963-970, 2022 07.
Article em En | MEDLINE | ID: mdl-35476365
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA / Processamento Alternativo Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA / Processamento Alternativo Tipo de estudo: Diagnostic_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido