New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
Rüfenacht
U B
UB
Zentrallabor, Stadtspital Triemli, Birmensdorferstrasse 497, CH-8063 Zurich, Switzerland.
Gregor
A
A
Gouya
L
L
Tarczynska-Nosal
S
S
Schneider-Yin
X
X
Deybach
J C
JC
D000293:Adolescent; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D005260:Female; D005294:Ferrochelatase / Q000235:genetics*; D005838:Genotype; D006801:Humans; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017121:Porphyria, Hepatoerythropoietic / Q000235:genetics*; D013223:Statistics as Topic
D005294:Ferrochelatase