A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
Anne Moniek van Tuyll
AM
van Serooskerken
Manon
M
Ernst
Reno S
RS
Bladergroen
Carlos
C
Wolff
Ylva
Y
Floderus
Pauline
P
Harper
Pamela
P
Poblete-Gutiérrez
Michel
M
van Geel
Jorge
J
Frank
D002677:Chile; D002878:Chromosomes, Human, Pair 1; D005420:Flavoproteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics*; D010375:Pedigree; D046350:Porphyria, Variegate / Q000235:genetics*; D050768:Protoporphyrinogen Oxidase / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion / Q000235:genetics*; D013548:Sweden
D005420:Flavoproteins; D024101:Mitochondrial Proteins; C493978:PPOX protein, human; D050768:Protoporphyrinogen Oxidase