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Pathogenicity and selective constraint on variation near splice sites.
Lord, Jenny; Gallone, Giuseppe; Short, Patrick J; McRae, Jeremy F; Ironfield, Holly; Wynn, Elizabeth H; Gerety, Sebastian S; He, Liu; Kerr, Bronwyn; Johnson, Diana S; McCann, Emma; Kinning, Esther; Flinter, Frances; Temple, I Karen; Clayton-Smith, Jill; McEntagart, Meriel; Lynch, Sally Ann; Joss, Shelagh; Douzgou, Sofia; Dabir, Tabib; Clowes, Virginia; McConnell, Vivienne P M; Lam, Wayne; Wright, Caroline F; FitzPatrick, David R; Firth, Helen V; Barrett, Jeffrey C; Hurles, Matthew E.
Afiliação
  • Lord J; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • Gallone G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • Short PJ; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • McRae JF; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • Ironfield H; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • Wynn EH; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • Gerety SS; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • He L; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, United Kingdom.
  • Kerr B; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom.
  • Johnson DS; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, United Kingdom.
  • McCann E; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, OPD2, Northern General Hospital, Sheffield S5 7AU, United Kingdom.
  • Kinning E; Liverpool Women's Hospital Foundation Trust, Liverpool L8 7SS, United Kingdom.
  • Flinter F; West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Institute of Medical Genetics, Yorkhill Hospital, Glasgow G3 8SJ, United Kingdom.
  • Temple IK; South East Thames Regional Genetics Centre, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London SE1 9RT, United Kingdom.
  • Clayton-Smith J; Faculty of Medicine, University of Southampton, Institute of Developmental Sciences, Southampton SO16 6YD, United Kingdom.
  • McEntagart M; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton SO16 5YA, United Kingdom.
  • Lynch SA; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom.
  • Joss S; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, United Kingdom.
  • Douzgou S; South West Thames Regional Genetics Centre, St. George's Healthcare NHS Trust, St. George's, University of London, London SW17 0RE, United Kingdom.
  • Dabir T; Temple Street Children's Hospital, Dublin 1, Ireland.
  • Clowes V; West of Scotland Regional Genetics Service, NHS Greater Glasgow and Clyde, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.
  • McConnell VPM; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, United Kingdom.
  • Lam W; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, United Kingdom.
  • Wright CF; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast BT9 7AB, United Kingom.
  • FitzPatrick DR; North West Thames Regional Genetics Service, London North West University Healthcare NHS Trust, Northwick Park and St. Mark's Hospitals, Harrow HA1 3UJ, United Kingdom.
  • Firth HV; Northern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust, Belfast City Hospital, Belfast BT9 7AB, United Kingom.
  • Barrett JC; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Western General Hospital, Edinburgh EH4 2XU, United Kingdom.
  • Hurles ME; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, United Kingdom.
Genome Res ; 29(2): 159-170, 2019 02.
Article em En | MEDLINE | ID: mdl-30587507
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Sítios de Splice de RNA / Mutação Limite: Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Sítios de Splice de RNA / Mutação Limite: Humans Idioma: En Revista: Genome Res Assunto da revista: BIOLOGIA MOLECULAR / GENETICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos