Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy

The genetic background of dilated cardiomyopathy is highly heterogeneous, with close to 100 known genes and a number of candidates described to date. Nebulin-related-anchoring protein (NRAP) is an actin-binding cytoskeletal protein expressed predominantly in striated and cardiac muscles, and is invo...

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Detalles Bibliográficos
Autores principales: Truszkowska, Grażyna T., Bilińska, Zofia T., Muchowicz, Angelika, Pollak, Agnieszka, Biernacka, Anna, Kozar-Kamińska, Katarzyna, Stawiński, Piotr, Gasperowicz, Piotr, Kosińska, Joanna, Zieliński, Tomasz, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469774/
https://www.ncbi.nlm.nih.gov/pubmed/28611399
http://dx.doi.org/10.1038/s41598-017-03189-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469774/
https://www.ncbi.nlm.nih.gov/pubmed/28611399
http://dx.doi.org/10.1038/s41598-017-03189-8

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