Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.

Antonicka, Hana

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