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Article

Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

Circulation. Cardiovascular genetics - 1 Aug 2009

Hershberger Ray E, Pinto Jose Renato, Parks Sharie B, Kushner Jessica D, Li Duanxiang, Ludwigsen Susan, Cowan Jason, Morales Ana, Parvatiyar Michelle S, Potter James D

Abstract excerpt

BACKGROUND: A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically important as genetic DCM, usually presenting with advanced, life-threatening disease, may be preventable with early intervention in relatives known to carry the mutation. METHODS AND RESULTS: We recently undertook bidirectional resequencing of TNNT2, the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20031601
DOI: 10.1161/CIRCGENETICS.108.846733
PMCID: PMC2900844

Genes

TNNT2

Provenance

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