Molecular and functional characterization of a human frataxin mutation found in hypertrophic cardiomyopathy.

Van Driest SL, Gakh O, Ommen SR, Isaya G, Ackerman MJ
Mol Genet Metab. 2005 85 (4): 280-5

PMID: 15936968 · DOI:10.1016/j.ymgme.2005.04.010

MeSH Terms (13)

Cardiomyopathy, Hypertrophic Carrier Proteins DNA Mutational Analysis Friedreich Ataxia Gene Frequency Heterozygote Humans In Vitro Techniques Iron-Binding Proteins Mutation Myocardium Phenotype Sarcomeres

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