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

Juha W. Koskenvuo; Inka Saarinen; Saija Ahonen; Johanna Tommiska; Sini Weckström; Eija H. Seppala; Sari Tuupanen; Tiia Kangas-Kontio; Jennifer Schleit; Krista Helio; Julie Hathaway; Anders Gummesson; Pia Dahlberg; Tiina H. Ojala; Ville Vepsäläinen; Ville Kytola; Mikko Muona; Johanna Sistonen; Pertteli Salmenpera; Massimiliano Gentile; Jussi Paananen; Samuel Myllykangas; Tero-Pekka Alastalo; Tiina Heliö

doi:10.1371/journal.pone.0245681

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

Juha W. Koskenvuo, Inka Saarinen, Saija Ahonen, Johanna Tommiska, Sini Weckström, Eija H. Seppala, Sari Tuupanen, Tiia Kangas-Kontio, Jennifer Schleit, Krista Helio, Julie Hathaway, Anders Gummesson, Pia Dahlberg, Tiina H. Ojala, Ville Vepsäläinen, Ville Kytola, Mikko Muona, Johanna Sistonen, Pertteli Salmenpera, Massimiliano GentileJussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö

Forskningsoutput: Tidskriftsbidrag › Artikel › Vetenskaplig › Peer review

Originalspråk	engelska
Artikelnummer	0245681
Tidskrift	PLoS One
Volym	16
Nummer	2
Antal sidor	13
ISSN	1932-6203
DOI	https://doi.org/10.1371/journal.pone.0245681
Status	Publicerad - 3 feb. 2021
MoE-publikationstyp	A1 Tidskriftsartikel-refererad

Vetenskapsgrenar

3121 Allmänmedicin, inre medicin och annan klinisk medicin

Åtkomst av dokument

10.1371/journal.pone.0245681Licens: CC BY

journal.pone.0245681 (1)Slutlig publicerad version, 743 KBLicens: CC BY

Citera det här

Koskenvuo, J. W., Saarinen, I., Ahonen, S., Tommiska, J., Weckström, S., Seppala, E. H., Tuupanen, S., Kangas-Kontio, T., Schleit, J., Helio, K., Hathaway, J., Gummesson, A., Dahlberg, P., Ojala, T. H., Vepsäläinen, V., Kytola, V., Muona, M., Sistonen, J., Salmenpera, P., ... Heliö, T. (2021). Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy. PLoS One, 16(2), [0245681]. https://doi.org/10.1371/journal.pone.0245681

@article{8ed8a1808cd646739a44a54f0cea5eea,

title = "Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy",

keywords = "N-RAP, MUTATIONS, GENETICS, LOCALIZATION, LANDSCAPE, PROTEIN, 3121 General medicine, internal medicine and other clinical medicine",

author = "Koskenvuo, {Juha W.} and Inka Saarinen and Saija Ahonen and Johanna Tommiska and Sini Weckstr{\"o}m and Seppala, {Eija H.} and Sari Tuupanen and Tiia Kangas-Kontio and Jennifer Schleit and Krista Helio and Julie Hathaway and Anders Gummesson and Pia Dahlberg and Ojala, {Tiina H.} and Ville Veps{\"a}l{\"a}inen and Ville Kytola and Mikko Muona and Johanna Sistonen and Pertteli Salmenpera and Massimiliano Gentile and Jussi Paananen and Samuel Myllykangas and Tero-Pekka Alastalo and Tiina Heli{\"o}",

year = "2021",

month = feb,

day = "3",

doi = "10.1371/journal.pone.0245681",

language = "English",

volume = "16",

journal = "PLoS One",

issn = "1932-6203",

publisher = "PUBLIC LIBRARY OF SCIENCE",

number = "2",

}

Koskenvuo, JW, Saarinen, I, Ahonen, S, Tommiska, J, Weckström, S, Seppala, EH, Tuupanen, S, Kangas-Kontio, T, Schleit, J, Helio, K, Hathaway, J, Gummesson, A, Dahlberg, P, Ojala, TH, Vepsäläinen, V, Kytola, V, Muona, M, Sistonen, J, Salmenpera, P, Gentile, M, Paananen, J, Myllykangas, S, Alastalo, T-P & Heliö, T 2021, 'Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy', PLoS One, vol. 16, nr. 2, 0245681. https://doi.org/10.1371/journal.pone.0245681

TY - JOUR

T1 - Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy

AU - Koskenvuo, Juha W.

AU - Saarinen, Inka

AU - Ahonen, Saija

AU - Tommiska, Johanna

AU - Weckström, Sini

AU - Seppala, Eija H.

AU - Tuupanen, Sari

AU - Kangas-Kontio, Tiia

AU - Schleit, Jennifer

AU - Helio, Krista

AU - Hathaway, Julie

AU - Gummesson, Anders

AU - Dahlberg, Pia

AU - Ojala, Tiina H.

AU - Vepsäläinen, Ville

AU - Kytola, Ville

AU - Muona, Mikko

AU - Sistonen, Johanna

AU - Salmenpera, Pertteli

AU - Gentile, Massimiliano

AU - Paananen, Jussi

AU - Myllykangas, Samuel

AU - Alastalo, Tero-Pekka

AU - Heliö, Tiina

PY - 2021/2/3

Y1 - 2021/2/3

KW - N-RAP

KW - MUTATIONS

KW - GENETICS

KW - LOCALIZATION

KW - LANDSCAPE

KW - PROTEIN

KW - 3121 General medicine, internal medicine and other clinical medicine

U2 - 10.1371/journal.pone.0245681

DO - 10.1371/journal.pone.0245681

M3 - Article

VL - 16

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 2

M1 - 0245681

ER -