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Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.
Verhagen, Judith M A; van den Born, Myrthe; van der Linde, Herma C; G J Nikkels, Peter; Verdijk, Rob M; Kivlen, Maryann H; van Unen, Leontine M A; Baas, Annette F; Ter Heide, Henriette; van Osch-Gevers, Lennie; Hoogeveen-Westerveld, Marianne; Herkert, Johanna C; Bertoli-Avella, Aida M; van Slegtenhorst, Marjon A; Wessels, Marja W; Verheijen, Frans W; Hassel, David; Hofstra, Robert M W; Hegde, Ramanujan S; van Hasselt, Peter M; van Ham, Tjakko J; van de Laar, Ingrid M B H.
Afiliación
  • Verhagen JMA; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • van den Born M; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • van der Linde HC; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • G J Nikkels P; Department of Pathology (P.G.J.N.), University Medical Center Utrecht, Utrecht University, the Netherlands.
  • Verdijk RM; Department of Pathology (R.M.V.), Erasmus MC, University Medical Center Rotterdam.
  • Kivlen MH; Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.).
  • van Unen LMA; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • Baas AF; Department of Genetics (A.F.B.), University Medical Center Utrecht, Utrecht University, the Netherlands.
  • Ter Heide H; Department of Pediatric Cardiology (H.t.H.), University Medical Center Utrecht, Utrecht University, the Netherlands.
  • van Osch-Gevers L; Department of Pediatric Cardiology (L.v.O.-G.), Erasmus MC, University Medical Center Rotterdam.
  • Hoogeveen-Westerveld M; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • Herkert JC; Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands (J.C.H.).
  • Bertoli-Avella AM; Centogene AG, Rostock (A.M.B.-A.).
  • van Slegtenhorst MA; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • Wessels MW; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • Verheijen FW; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • Hassel D; Department of Medicine III, University Hospital Heidelberg, Germany (D.H.).
  • Hofstra RMW; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • Hegde RS; Medical Research Council Laboratory of Molecular Biology, Cambridge Biomedical Campus, United Kingdom (M.H.K., R.S.H.).
  • van Hasselt PM; Department of Pediatrics (P.M.v.H.), University Medical Center Utrecht, Utrecht University, the Netherlands.
  • van Ham TJ; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
  • van de Laar IMBH; Department of Clinical Genetics (J.M.A.V., M.v.d.B., H.C.v.d.L., L.M.A.v.U., M.H.-W., M.A.v.S., M.W.W., F.W.V., R.M.W.H., T.J.v.H., I.M.B.H.v.d.L.), Erasmus MC, University Medical Center Rotterdam.
Circ Genom Precis Med ; 12(9): 397-406, 2019 09.
Article en En | MEDLINE | ID: mdl-31461301
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Puntual / Citosol / Proteínas de Pez Cebra / ATPasas Transportadoras de Arsenitos / Cardiomiopatías Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Female / Humans Idioma: En Revista: Circ Genom Precis Med Año: 2019 Tipo del documento: Article
Texto completo
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XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Mutación Puntual / Citosol / Proteínas de Pez Cebra / ATPasas Transportadoras de Arsenitos / Cardiomiopatías Tipo de estudio: Prognostic_studies Límite: Animals / Child, preschool / Female / Humans Idioma: En Revista: Circ Genom Precis Med Año: 2019 Tipo del documento: Article