Article
Phenotype-genotype relationships in complementation group 3 of the peroxisome-biogenesis disorders.
American journal of human genetics - 1 Nov 1998
Chang C C, Gould S J
Abstract excerpt
The peroxisome-biogenesis disorders (PBDs) are a set of often lethal genetic diseases characterized by mental retardation and defective peroxisomal matrix protein import. Mutations in PEX12 are known to underlie the disease in two patients from complementation group 3 of the PBDs. Here we show th...
Topics
- Amino Acid Sequence
- Base Sequence
- Cell Line
- Cells, Cultured
- Fibroblasts
- Genetic Complementation Test
- Genotype
- Humans
- Introns
- Membrane Proteins
- Molecular Sequence Data
- Oligodeoxyribonucleotides
- Open Reading Frames
- Peroxisomal Disorders
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Random Amplified Polymorphic DNA Technique