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...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA
- DNA Primers
- Disease Models, Animal
- Genetic Therapy
- Homozygote
- Humans
- Models, Genetic
- Molecular Sequence Data
- Mutation, Missense
- Phenotype
- Porphyria, Hepatoerythropoietic
- Sequence Homology, Amino Acid
- Transfection
- Uroporphyrinogen Decarboxylase
- Zebrafish