KEGG   VARIANT: 1355v1
Entry
1355v1                      Variant                                
Name
COX15 mutation
Gene
COX15  cytochrome c oxidase assembly homolog COX15 [KO:K02259]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603646
Reference
PMID:12474143
  Authors
Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA
  Title
Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy.
  Journal
Am J Hum Genet 72:101-14 (2003)
DOI:10.1086/345489
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