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Article

Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies.

Cardiovascular research - 1 Oct 2004

Kasahara Hideko, Benson D Woodrow

Abstract excerpt

OBJECTIVE: There has been considerable interest in understanding determinants of the diverse cardiac phenotypes associated with heterozygous NKX2.5 mutations. We hypothesized that analysis of functional properties of NKX2.5 mutant proteins would result in the ability to classify mutations according to function in a scheme that would help to clarify genotype-phenotype correlations. We analyzed missense mutations...

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Share to Electrophoretic Mobility Shift Assay
Share to Genes, Homeobox

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Block

Share to Heart Defects, Congenital

Share to Homeobox Protein Nkx-2.5

Share to Homeodomain Proteins

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Source

Identifiers

PMID: 15364612
DOI: 10.1016/j.cardiores.2004.06.004

Genes

GATA4
TBX5

Provenance

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