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Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.
Ochoa, Juan P; Lopes, Luis R; Perez-Barbeito, Marlene; Cazón-Varela, Laura; de la Torre-Carpente, Maria M; Sonicheva-Paterson, Natalia; De Uña-Iglesias, David; Quinn, Ellen; Kuzmina-Krutetskaya, Svetlana; Garrote, José A; Elliott, Perry M; Monserrat, Lorenzo.
Affiliation
  • Ochoa JP; Cardiovascular Research Group, Biomedical Research Institute (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, A Coruña University (UDC), A Coruña, Spain.
  • Lopes LR; Scientific Department, Health in Code SL, A Coruña, Spain.
  • Perez-Barbeito M; Institute of Cardiovascular Science, University College London, London, UK.
  • Cazón-Varela L; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
  • de la Torre-Carpente MM; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart (ERN GUARD-HEART).
  • Sonicheva-Paterson N; Scientific Department, Health in Code SL, A Coruña, Spain.
  • De Uña-Iglesias D; Scientific Department, Health in Code SL, A Coruña, Spain.
  • Quinn E; Cardiology, Hospital Universitario Rio Hortega, Valladolid, Spain.
  • Kuzmina-Krutetskaya S; Scientific Department, Health in Code SL, A Coruña, Spain.
  • Garrote JA; Cardiovascular Research Group, Biomedical Research Institute (INIBIC), Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas, A Coruña University (UDC), A Coruña, Spain.
  • Elliott PM; Scientific Department, Health in Code SL, A Coruña, Spain.
  • Monserrat L; Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Clin Genet ; 98(1): 86-90, 2020 07.
Article in En | MEDLINE | ID: mdl-32335906
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Exons / Formins / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2020 Type: Article Affiliation country: Spain
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cardiomyopathy, Hypertrophic / Exons / Formins / Mutation Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Humans / Male / Middle aged Language: En Journal: Clin Genet Year: 2020 Type: Article Affiliation country: Spain