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Biallelic PRKAG2 Truncating Variants Are Associated with Severe Neonatal Cardiomyopathies.
Janin, Alexandre; Gouy, Evan; Putoux, Audrey; Perouse-de-Monclos, Thomas; Chevalier, Philippe; Faucherre, Adèle; Mancilla Abaroa, Jourdano; Jopling, Chris; Collardeau Frachon, Sophie; Radojevic, Jelena; El Chehadeh, Salima; Millat, Gilles.
  • Janin A; Laboratoire de Cardiogénétique Moléculaire (A.J., G.M.), Hospices Civils de Lyon, Lyon, France.
  • Gouy E; NGS sequencing platform for molecular diagnosis (A.J., G.M.), Hospices Civils de Lyon, Lyon, France.
  • Putoux A; Université de Lyon & Université Lyon, Lyon, France (A.J., E.G., P.C., S.C.F., G.M.).
  • Perouse-de-Monclos T; Université de Lyon & Université Lyon, Lyon, France (A.J., E.G., P.C., S.C.F., G.M.).
  • Chevalier P; Genetics Department, University Hospital of Lyon, Bron, France (E.G., A.P.).
  • Faucherre A; Bessereau'team, MeLiS (Mechanisms in integrated Life Sciences), CNRS UMR 5284 INSERM U1314, Claude Bernard University Lyon, Lyon, France (E.G.).
  • Mancilla Abaroa J; Genetics Department, University Hospital of Lyon, Bron, France (E.G., A.P.).
  • Jopling C; Paediatric Cardiology and Congenital Heart Disease Department, Cardiovascular Louis Pradel Hospital (T.P.-d.-M.), Hospices Civils de Lyon, Lyon, France.
  • Collardeau Frachon S; Université de Lyon & Université Lyon, Lyon, France (A.J., E.G., P.C., S.C.F., G.M.).
  • Radojevic J; Hôpital Cardiologique Louis Pradel, Service de Rythmologie, Lyon, France (P.C.).
  • El Chehadeh S; Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, LabEx ICST, Montpellier, France (A.F., J.M.A., C.J.).
  • Millat G; Institute of Functional Genomics, University of Montpellier, CNRS, INSERM, LabEx ICST, Montpellier, France (A.F., J.M.A., C.J.).
Circ Genom Precis Med ; 16(3): 277-279, 2023 06.
Article en En | MEDLINE | ID: mdl-37013823
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Humans / Newborn Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Humans / Newborn Idioma: En Año: 2023 Tipo del documento: Article