DNA-based diagnosis of erythropoietic protoporphyria in two families and the frequency of a low-expression FECH allele in a Chinese population.
Lau
Kin-Chong
KC
Lam
Ching-Wan
CW
Fong
Bonnie
B
Siu
Tak-Shing
TS
Tam
Sidney
S
D044466:Asian People / Q000235:genetics*; D002648:Child; D002681:China; D004247:DNA / Q000235:genetics*; D005190:Family; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D005786:Gene Expression Regulation; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D011110:Polymorphism, Genetic; D046351:Protoporphyria, Erythropoietic / Q000175:diagnosis* / Q000235:genetics*; D055815:Young Adult
D004247:DNA; D005294:Ferrochelatase