COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
Disease: Harderoporphyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342859
Disease: Harderoporphyria
Harderoporphyria 		0.010 GeneticVariation disease BEFREE In the present study, molecular investigations in a second family with neonatal hemolytic anemia and harderoporphyria revealed two heterozygous point mutations in the COX gene. 9454777 1998