Article
Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus.
Molecular carcinogenesis - 1 Jan 1993
Zhu Y, Stambrook P J, Tischfield J A
Abstract excerpt
Expression of a recessive phenotype can occur by a number of different mechanisms, such as chromosomal deletion, recombination, and intragenic frameshift mutation or base substitution. To examine the contribution of different mutational events, we isolated and characterized a human fibroblast cel...
Topics
- Base Sequence
- Cell Line
- Chromosome Deletion
- DNA Mutational Analysis
- Gene Expression
- Genes, Recessive
- Heterozygote
- Humans
- Hypoxanthine Phosphoribosyltransferase
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction