Article
Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B.
Human molecular genetics - 1 Sept 1998
Okumoto K, Itoh R, Shimozawa N, Suzuki Y, Tamura S, Kondo N, Fujiki Y
Abstract excerpt
Peroxisome biogenesis disorders (PBD), such as Zellweger syndrome, are autosomal recessive diseases caused by a deficiency in peroxisome assembly as well as a malfunction of the peroxisomes, where at least 10 genotypes have been reported. We have isolated a human PEX10 cDNA (HsPEX10) by an expres...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- CHO Cells
- Cloning, Molecular
- Cricetinae
- DNA, Complementary
- Fungal Proteins
- Gene Expression
- Genetic Complementation Test
- Humans
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- PHEX Phosphate Regulating Neutral Endopeptidase
- Pichia
- Proteins
- Sequence Homology, Amino Acid