Human erythropoietic protoporphyria: identification of a mutation at the splice donor site of intron 7 causing exon 7 skipping of the ferrochelatase gene.
Nakahashi
Y
Y
Third Department of Internal Medicine, Kansai Medical University, Osaka, Japan.
Miyazaki
H
H
Kadota
Y
Y
Naitoh
Y
Y
Inoue
K
K
Yamamoto
M
M
Hayashi
N
N
Taketani
S
S
D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005091:Exons; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D017121:Porphyria, Hepatoerythropoietic / Q000201:enzymology / Q000235:genetics*; D046351:Protoporphyria, Erythropoietic; D012326:RNA Splicing / Q000235:genetics
D004247:DNA; D005294:Ferrochelatase