Article
Reduction to homozygosity is the predominant spontaneous mutational event in cultured human lymphoblastoid cells.
Mutation research - 1 Jan 2000
Klinedinst D K, Drinkwater N R
Abstract excerpt
Expression of recessive mutant phenotypes can occur by a number of different mechanisms. Inactivation of the wild-type allele by base-substitution mutations, frameshift mutations or small deletions occurs at both hemizygous and heterozygous cellular loci, while other events, such as chromosome le...
Topics
- Adenine Phosphoribosyltransferase
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Southern
- Cell Line
- DNA
- Heterozygote
- Homozygote
- Humans
- Karyotyping
- Lymphocytes
- Mice
- Molecular Sequence Data
- Mutation
- Polymorphism, Restriction Fragment Length