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

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

Abstract 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, an...

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Bibliographic Details
Main Authors: Grażyna T. Truszkowska, Zofia T. Bilińska, Angelika Muchowicz, Agnieszka Pollak, Anna Biernacka, Katarzyna Kozar-Kamińska, Piotr Stawiński, Piotr Gasperowicz, Joanna Kosińska, Tomasz Zieliński, Rafał Płoski
Format: Article
Language:English
Published: Nature Publishing Group 2017-06-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-017-03189-8

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https://doi.org/10.1038/s41598-017-03189-8

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