Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy.
Costa, Mauro W
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
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