Minderman, G.

leucine mutation patient blood family umbilical valine fetus erythropoietic protoporphyria study enrichment uptake table medicine allele protoporphyria concentration www.molmed.org proof erythropoietic methionine protein fech gene metabolism ferrochelatase reamination sample ferrochelatase gene ␣ kic proband result umbilical vein kinetic liver value polymorphism plasma sense ␣ kiv synthesis disease netherland haplotype expression sister method activity placenta antisense infant model 343 c >t 3-48 proteolysis oxidation subject brother artery physiol novel codon carbon gouya methionine kinetics deybach jc 1-23 argentinean women porphyria infusion reamination rates pp ix liver disease effect measurement battaglia release birth reamination rate umbilical artery