Homozygosity Mapping and Exome Sequencing Reveal GATAD1 Mutation in Autosomal Recessive Dilated Cardiomyopathy

BACKGROUND: Dilated cardiomyopathy (DCM) is a heritable, genetically heterogeneous disorder, typically exhibiting autosomal dominant inheritance. Genomic strategies enable discovery of novel, unsuspected molecular underpinnings of familial DCM. We performed genome-wide mapping and exome sequencing i...

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Main Authors: Theis, Jeanne L., Sharpe, Katharine M., Matsumoto, Martha E., Chai, High Seng, Nair, Asha A., Theis, Jason D., de Andrade, Mariza, Wieben, Eric D., Michels, Virginia V., Olson, Timothy M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248690/
https://ncbi.nlm.nih.gov/pubmed/21965549
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1161/CIRCGENETICS.111.961052
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