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A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans.
Hayesmoore, Jesse B G; Bowman, Michael; Shannon, Nora; Blair, Edward; Watkins, Hugh; Thomson, Kate L.
Afiliação
  • Hayesmoore JBG; Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.).
  • Bowman M; Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.).
  • Shannon N; Clinical Genetics Service, Nottingham City Hospital, Nottingham University Hospitals NHS Trust, United Kingdom (N.S.).
  • Blair E; Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals NHS Foundation Trust, United Kingdom (E.B.).
  • Watkins H; Radcliffe Department of Medicine, Division of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, United Kingdom (H.W.).
  • Thomson KL; Oxford Regional Genetics Laboratories, Churchill Hospital, Oxford University Hospitals NHS Foundation Trust, United Kingdom (J.B.G.H., M.B., K.L.T.).
Circ Genom Precis Med ; 17(1): e004134, 2024 Feb.
Article em En | MEDLINE | ID: mdl-38258577

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Haploinsuficiência Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cardiomiopatia Hipertrófica / Haploinsuficiência Limite: Humans Idioma: En Ano de publicação: 2024 Tipo de documento: Article