OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

BACKGROUND: Studies of the functional consequences of DCM-causing mutations have been limited to a few cases where patients with known mutations had heart transplants. To increase the number of potential tissue samples for direct investigation we performed whole exon sequencing of explanted heart mu...

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Publicat a:PLoS One
Autors principals: Marston, Steven, Montgiraud, Cecile, Munster, Alex B., Copeland, O’Neal, Choi, Onjee, dos Remedios, Cristobal, Messer, Andrew E., Ehler, Elisabeth, Knöll, Ralph
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2015
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4583186/
https://ncbi.nlm.nih.gov/pubmed/26406308
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0138568
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