Article
A zebrafish model for hepatoerythropoietic porphyria.
Nature genetics - 1 Nov 1998
Wang H, Long Q, Marty S D, Sassa S, Lin S
Abstract excerpt
Defects in the enzymes involved in the haem biosynthetic pathway can lead to a group of human diseases known as the porphyrias. yquem (yqe(tp61)) is a zebrafish mutant with a photosensitive porphyria syndrome. Here we show that the porphyric phenotype is due to an inherited homozygous mutation in the gene encoding uroporphyrinogen decarboxylase (UROD); a homozygous deficiency of this enzyme causes...
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