Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy. [electronic resource]
- Circulation. Cardiovascular genetics Jun 2013
- 238-47 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1942-3268
10.1161/CIRCGENETICS.113.000057 doi
Adolescent Adult Age of Onset Amino Acid Sequence Animals Base Sequence COS Cells Cardiomyopathies--genetics Chlorocebus aethiops Female Heart Defects, Congenital--genetics Homeobox Protein Nkx-2.5 Homeodomain Proteins--chemistry Humans Male Middle Aged Molecular Sequence Data Mutation Myocytes, Cardiac--metabolism Pedigree Proteolysis Sequence Alignment Transcription Factors--chemistry Transcriptional Activation Young Adult