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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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Principais autores: 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
Idioma:Inglês
Publicado em: Wiley 2020-02-01
coleção:Molecular Genetics & Genomic Medicine
Assuntos:
dilated cardiomyopathy
genetic modifier
genetics
sarcomere
Acesso em linha:https://doi.org/10.1002/mgg3.1049
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