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

Molecular Genetics and Metabolism

Volumn 85, Issue 4, 2005, Pages 280-285

  Van Driest, Sara L ^a   Gakh, Oleksandr ^a,b   Ommen, Steve R ^b   Isaya, Grazia ^a,b,c   Ackerman, Michael J ^a,b,d  

^a MAYO CLINIC   (United States)

^b Mayo Clinic   (United States)

^c Mitochondrial Genetics Laboratory   (United States)

^d Sudden Death Genomics Laboratory   (United States)

Author keywords

Frataxin; Friedreich ataxia; Genetics; Hypertrophic cardiomyopathy; Myosin binding protein C

Indexed keywords

FRATAXIN; MYOSIN BINDING PROTEIN C; PROTEIN PRECURSOR;

ADULT; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; FUNCTIONAL GENOMICS; GENE MUTATION; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; ISOLATED LIVER; LIVER MITOCHONDRION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OXIDATIVE STRESS; PEPTIDE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN DENATURATION; PROTEIN FUNCTION; SITE DIRECTED MUTAGENESIS;

CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; DNA MUTATIONAL ANALYSIS; FRIEDREICH ATAXIA; GENE FREQUENCY; HETEROZYGOTE; HUMANS; IRON-BINDING PROTEINS; MUTATION; MYOCARDIUM; PHENOTYPE; SARCOMERES;

ATAXIA;

EID: 23044505674     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.04.010     Document Type: Article

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