ID
45446
Descripción
Principal Investigator: Deepak Srivastava, Gladstone Institute of Cardiovascular Disease, San Francisco, CA, USA MeSH: Heart Septal Defects https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000758 The study identified the causal mutation in a five-generation pedigree harboring a cardiac septal defect. The inheritance pattern is consistent with an autosomal dominant mutation with high penetrance. We performed whole-genome sequencing (Complete Genomics) on 21 individuals in the pedigree, of which 11 individuals are affected. We identified a single gene, GATA4, as primarily responsible for this cardiac phenotype in this pedigree.
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Versiones (1)
- 7/12/22 7/12/22 - Chiara Middel
Titular de derechos de autor
Deepak Srivastava, Gladstone Institute of Cardiovascular Disease, San Francisco, CA, USA
Subido en
7 de diciembre de 2022
DOI
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Licencia
Creative Commons BY 4.0
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dbGaP phs000758 Family Genomics of Congenital Heart Defects
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