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

<h4>Background</h4>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 prot...

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Principais autores:	Juha W Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H Seppälä, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Heliö, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H Ojala, Ville Vepsäläinen, Ville Kytölä, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö
格式:	Artigo
语言:	Inglês
出版:	Public Library of Science (PLoS) 2021-01-01
丛编:	PLoS ONE
在线阅读:	https://doi.org/10.1371/journal.pone.0245681
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