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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...
Autores principales: | Marston, Steven, Montgiraud, Cecile, Munster, Alex B., Copeland, O’Neal, Choi, Onjee, dos Remedios, Cristobal, Messer, Andrew E., Ehler, Elisabeth, Knöll, Ralph |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4583186/ https://www.ncbi.nlm.nih.gov/pubmed/26406308 http://dx.doi.org/10.1371/journal.pone.0138568 |
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