The low expression allele (IVS3-48C) of the ferrochelatase gene leads to low enzyme activity associated with erythropoietic protoporphyria.
Tsuyoshi
T
Tahara
Masayoshi
M
Yamamoto
Reiko
R
Akagi
Hideo
H
Harigae
Shigeru
S
Taketani
D000483:Alleles; D044466:Asian People; D005294:Ferrochelatase / Q000235:genetics* / Q000378:metabolism*; D015971:Gene Expression Regulation, Enzymologic; D056726:Genetic Association Studies; D006801:Humans; D009154:Mutation; D046351:Protoporphyria, Erythropoietic / Q000201:enzymology* / Q000235:genetics*
D005294:Ferrochelatase