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Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy
BACKGROUND: Idiopathic dilated cardiomyopathy (DCM) is typically diagnosed in adulthood, yet familial cases exhibit variable age‐dependent penetrance and a subset of patients develop sporadic DCM in childhood. We sought to discover the molecular basis of sporadic DCM in an 11‐year‐old female with se...
Autores principales: | Long, Pamela A., Larsen, Brandon T., Evans, Jared M., Olson, Timothy M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4845292/ https://www.ncbi.nlm.nih.gov/pubmed/26656454 http://dx.doi.org/10.1161/JAHA.115.002443 |
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