Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. [electronic resource]
- American journal of human genetics Jan 2003
- 101-14 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0002-9297
10.1086/345489 doi
Age of Onset Amino Acid Sequence Animals Base Sequence Cardiomyopathy, Hypertrophic--enzymology DNA Mutational Analysis Fibroblasts Heme--analogs & derivatives Humans Membrane Proteins--biosynthesis Mitochondria, Heart--enzymology Molecular Sequence Data Mutation--genetics Myocardium--enzymology Saccharomyces cerevisiae Proteins