TY  - GEN
AU  - Costa,Mauro W
AU  - Guo,Guanglan
AU  - Wolstein,Orit
AU  - Vale,Molly
AU  - Castro,Maria L
AU  - Wang,Libin
AU  - Otway,Robyn
AU  - Riek,Peter
AU  - Cochrane,Natalie
AU  - Furtado,Milena
AU  - Semsarian,Christopher
AU  - Weintraub,Robert G
AU  - Yeoh,Thomas
AU  - Hayward,Christopher
AU  - Keogh,Anne
AU  - Macdonald,Peter
AU  - Feneley,Michael
AU  - Graham,Robert M
AU  - Seidman,Jonathan G
AU  - Seidman,Christine E
AU  - Rosenthal,Nadia
AU  - Fatkin,Diane
AU  - Harvey,Richard P
TI  - Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy
SN  - 1942-3268
PY  - 2013///1018
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Amino Acid Sequence
KW  - Animals
KW  - Base Sequence
KW  - COS Cells
KW  - Cardiomyopathies
KW  - genetics
KW  - Chlorocebus aethiops
KW  - Female
KW  - Heart Defects, Congenital
KW  - Homeobox Protein Nkx-2.5
KW  - Homeodomain Proteins
KW  - chemistry
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Myocytes, Cardiac
KW  - metabolism
KW  - Pedigree
KW  - Proteolysis
KW  - Sequence Alignment
KW  - Transcription Factors
KW  - Transcriptional Activation
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1161/CIRCGENETICS.113.000057
ER  -