Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families.

Hanley, Alan

Mutation of a common amino acid in NKX2.5 results in dilated cardiomyopathy in two large families. [electronic resource] - BMC medical genetics Nov 2016 - 83 p. digital

Publication Type: Journal Article

1471-2350

10.1186/s12881-016-0347-6 doi


Amino Acids--genetics
Cardiomyopathy, Dilated--diagnostic imaging
DNA--chemistry
DNA Mutational Analysis
Death, Sudden, Cardiac--etiology
Electrocardiography
Female
Genotype
High-Throughput Nucleotide Sequencing
Homeobox Protein Nkx-2.5--genetics
Humans
Male
Pedigree
Phenotype
Polymorphism, Single Nucleotide