1 | COX15, COX15D, FHCM1 |
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. | |
Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA. | |
Am J Hum Genet 72(1):101-14. Epub 2002 Dec 9. 2003 | |