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DNA-pools targeted-sequencing as a robust cost-effective method to detect rare variants: Application to dilated cardiomyopathy genetic diagnosis.
Perret, Claire; Proust, Carole; Esslinger, Ulrike; Ader, Flavie; Haas, Jan; Pruny, Jean-François; Isnard, Richard; Richard, Pascale; Trégouët, David-Alexandre; Charron, Philippe; Cambien, François; Villard, Eric.
Afiliación
  • Perret C; Sorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular and Metabolic Diseases, Paris, France.
  • Proust C; ICAN Institute for Cardiometabolism and Nutrition, Paris, France.
  • Esslinger U; Sorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular and Metabolic Diseases, Paris, France.
  • Ader F; Sorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular and Metabolic Diseases, Paris, France.
  • Haas J; Sorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular and Metabolic Diseases, Paris, France.
  • Pruny JF; ICAN Institute for Cardiometabolism and Nutrition, Paris, France.
  • Isnard R; APHP, UF Cardiogénétique et Myogénétique, Service de Biochimie Métabolique, Hôpital Universitaire Pitié-Salpêtrière, Paris, France.
  • Richard P; Department of Internal Medicine III, University of Heidelberg, Heidelberg, Germany.
  • Trégouët DA; DZHK (German Centre for Cardiovascular Research), Berlin, Germany.
  • Charron P; APHP, Centre de Référence Maladies Cardiaques Héréditaires, Hôpital Pitié-Salpêtrière, Paris, France.
  • Cambien F; Sorbonne Université, INSERM, UMR-S1166, Research Unit on Cardiovascular and Metabolic Diseases, Paris, France.
  • Villard E; ICAN Institute for Cardiometabolism and Nutrition, Paris, France.
Clin Genet ; 105(2): 185-189, 2024 02.
Article en En | MEDLINE | ID: mdl-37904629

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Cardiomiopatías Límite: Humans Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Cardiomiopatía Dilatada / Cardiomiopatías Límite: Humans Idioma: En Revista: Clin Genet Año: 2024 Tipo del documento: Article País de afiliación: Francia