Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers

Abstract Background A causal genetic mutation is found in 40% of families with dilated cardiomyopathy (DCM), leaving a large percentage of families genetically unsolved. This prevents adequate counseling and clear recommendations in these families. We aim to identify novel genes or modifiers associa...

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Autores principales: Job A. J. Verdonschot, Emma L. Robinson, Kiely N. James, Mohamed W. Mohamed, Godelieve R. F. Claes, Kari Casas, Els K. Vanhoutte, Mark R. Hazebroek, Gabriel Kringlen, Michele M. Pasierb, Arthur van denWijngaard, Jan F. C. Glatz, Stephane R. B. Heymans, Ingrid P. C. Krapels, Shareef Nahas, Han G. Brunner, Radek Szklarczyk
Formato: Artigo
Lenguaje:Inglês
Publicado: Wiley 2020-02-01
Colección:Molecular Genetics & Genomic Medicine
Materias:
dilated cardiomyopathy
genetic modifier
genetics
sarcomere
Acceso en línea:https://doi.org/10.1002/mgg3.1049
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