Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

BACKGROUND: Familial dilated cardiomyopathy (DCM) is typically a monogenic disorder with dominant inheritance. Although over 40 genes have been linked to DCM, more than half of the patients undergoing comprehensive genetic testing are left without molecular diagnosis. Recently, biallelic protein-tru...

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Udgivet i:PLoS One
Main Authors: Koskenvuo, Juha W., Saarinen, Inka, Ahonen, Saija, Tommiska, Johanna, Weckström, Sini, Seppälä, Eija H., Tuupanen, Sari, Kangas-Kontio, Tiia, Schleit, Jennifer, Heliö, Krista, Hathaway, Julie, Gummesson, Anders, Dahlberg, Pia, Ojala, Tiina H., Vepsäläinen, Ville, Kytölä, Ville, Muona, Mikko, Sistonen, Johanna, Salmenperä, Pertteli, Gentile, Massimiliano, Paananen, Jussi, Myllykangas, Samuel, Alastalo, Tero-Pekka, Heliö, Tiina
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2021
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7857588/
https://ncbi.nlm.nih.gov/pubmed/33534821
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0245681
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