title: New missense mutation in the human ferrochelatase gene in a family with erythropoietic protoporphyria: functional studies and correlation of genotype and phenotype.
authors.affiliation: Zentrallabor, Stadtspital Triemli, Birmensdorferstrasse 497, CH-8063 Zurich, Switzerland.
authors.forename: U B
authors.initials: UB
authors.lastname: Rüfenacht
authors.forename: A
authors.initials: A
authors.lastname: Gregor
authors.forename: L
authors.initials: L
authors.lastname: Gouya
authors.forename: S
authors.initials: S
authors.lastname: Tarczynska-Nosal
authors.forename: X
authors.initials: X
authors.lastname: Schneider-Yin
authors.forename: J C
authors.initials: JC
authors.lastname: Deybach
mesh_terms: 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
chemical_list: D005294:Ferrochelatase