Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria.
Kang
T-W
TW
Oh
S-W
SW
Kim
M-R
MR
Lee
J S
JS
Kim
S-C
SC
D000328:Adult; D018388:Codon, Terminator; D005091:Exons; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010641:Phenotype; D017092:Porphyria, Erythropoietic / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*
D018388:Codon, Terminator; D014576:Uroporphyrinogen III Synthetase