Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy

HCM, the most common inherited cardiac disease, is mainly caused by mutations in sarcomeric genes. More than a third of the patients are heterozygous for mutations in the MYH7 gene encoding for the β-myosin heavy chain. In HCM-patients, expression of the mutant and the wildtype allele can be unequal...

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Detalles Bibliográficos
Autores principales: Montag, Judith, Syring, Mandy, Rose, Julia, Weber, Anna-Lena, Ernstberger, Pia, Mayer, Anne-Kathrin, Becker, Edgar, Keyser, Britta, dos Remedios, Cristobal, Perrot, Andreas, van der Velden, Jolanda, Francino, Antonio, Navarro-Lopez, Francesco, Ho, Carolyn Yung, Brenner, Bernhard, Kraft, Theresia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742120/
https://www.ncbi.nlm.nih.gov/pubmed/29101517
http://dx.doi.org/10.1007/s10974-017-9486-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5742120/
https://www.ncbi.nlm.nih.gov/pubmed/29101517
http://dx.doi.org/10.1007/s10974-017-9486-4

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