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Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?

Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.

Detalles Bibliográficos
Autor principal: Barefield, David Y.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072154/
https://www.ncbi.nlm.nih.gov/pubmed/36946992
http://dx.doi.org/10.1085/jgp.202313351
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author Barefield, David Y.
author_facet Barefield, David Y.
author_sort Barefield, David Y.
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description Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.
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spelling pubmed-100721542023-09-22 Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations? Barefield, David Y. J Gen Physiol Commentary Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels. Rockefeller University Press 2023-03-22 /pmc/articles/PMC10072154/ /pubmed/36946992 http://dx.doi.org/10.1085/jgp.202313351 Text en © 2023 Barefield https://creativecommons.org/licenses/by-nc-sa/4.0/http://www.rupress.org/terms/This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.rupress.org/terms/). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 4.0 International license, as described at https://creativecommons.org/licenses/by-nc-sa/4.0/).
spellingShingle Commentary
Barefield, David Y.
Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
title Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
title_full Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
title_fullStr Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
title_full_unstemmed Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
title_short Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
title_sort is haploinsufficiency a sufficient mechanism for mybpc3 truncating mutations?
topic Commentary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072154/
https://www.ncbi.nlm.nih.gov/pubmed/36946992
http://dx.doi.org/10.1085/jgp.202313351
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