Article
Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
Human mutation - 1 Jan 1998
States J C, McDuffie E R, Myrand S P, McDowell M, Cleaver J E
Abstract excerpt
A series of xeroderma pigmentosum group A cell lines from 19 patients and cell lines from 13 other family members were examined for XPA mutations to find previously unidentified mutations from American and European patients, to establish pedigrees in represented families, and to develop a databas...
Topics
- Alternative Splicing
- Cell Line
- DNA Damage
- DNA-Binding Proteins
- Frameshift Mutation
- Genes, Recessive
- Humans
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Sequence Analysis, DNA
- Xeroderma Pigmentosum