Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

Pediatric cardiomyopathies are a clinically and genetically heterogeneous group of heart muscle disorders associated with high morbidity and mortality. Although knowledge of the genetic basis of pediatric cardiomyopathy has improved considerably, the underlying cause remains elusive in a substantial...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7205403/
https://www.ncbi.nlm.nih.gov/pubmed/31461301
http://dx.doi.org/10.1161/CIRCGEN.119.002507

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