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Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Tester, David J; Bombei, Hannah M; Fitzgerald, Kristi K; Giudicessi, John R; Pitel, Beth A; Thorland, Erik C; Russell, Barbara G; Hamrick, Samantha K; Kim, C S John; Haglund-Turnquist, Carla M; Johnsrude, Christopher L; Atkins, Dianne L; Ochoa Nunez, Luis A; Law, Ian; Temple, Joel; Ackerman, Michael J.
Afiliação
  • Tester DJ; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota.
  • Bombei HM; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Fitzgerald KK; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.
  • Giudicessi JR; Stead Family Children's Hospital, Division of Pediatric Cardiology, University of Iowa, Iowa City.
  • Pitel BA; Nemours Cardiac Center, Alfred I. duPont Hospital for Children, Wilmington, Delaware.
  • Thorland EC; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota.
  • Russell BG; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Hamrick SK; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.
  • Kim CSJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Haglund-Turnquist CM; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Johnsrude CL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.
  • Atkins DL; Genomics Laboratory, Mayo Clinic, Rochester, Minnesota.
  • Ochoa Nunez LA; Division of Pediatric Cardiology, University of Louisville, Louisville, Kentucky.
  • Law I; Windland Smith Rice Sudden Death Genomics Laboratory, Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minnesota.
  • Temple J; Division of Heart Rhythm Services, Department of Cardiovascular Medicine, Mayo Clinic, Rochester, Minnesota.
  • Ackerman MJ; Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.
JAMA Cardiol ; 5(3): 13-18, 2020 03 01.
Article em En | MEDLINE | ID: mdl-31913406

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linhagem / Morte Súbita Cardíaca / Canal de Liberação de Cálcio do Receptor de Rianodina / Duplicação Gênica / Esforço Físico / Amish / Homozigoto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: JAMA Cardiol Ano de publicação: 2020 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Linhagem / Morte Súbita Cardíaca / Canal de Liberação de Cálcio do Receptor de Rianodina / Duplicação Gênica / Esforço Físico / Amish / Homozigoto Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: JAMA Cardiol Ano de publicação: 2020 Tipo de documento: Article