A novel A(-4)-to-G acceptor splice site mutation leads to three bases insertion in ferrochelatase mRNA in a patient with erythropoietic protoporphyria.
Yotsumoto
S
S
Shimada
S
S
Terasaki
K
K
Taketani
S
S
Kobayashi
K
K
Saheki
T
T
Kanzaki
T
T
D000328:Adult; D005294:Ferrochelatase / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D017121:Porphyria, Hepatoerythropoietic / Q000201:enzymology / Q000235:genetics*; D022821:RNA Splice Sites / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics
D022821:RNA Splice Sites; D012333:RNA, Messenger; D005294:Ferrochelatase