Article
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
Mutation research - 1 Mar 1992
Johnson R T, Squires S
Abstract excerpt
The xeroderma pigmentosum complementation group D is defined by more than 30 unrelated individuals of whom less than half show major abnormalities of the central nervous system, once considered to be the hallmark of the group. Fibroblasts from the great majority of these individuals show very con...
Topics
- Abnormalities, Multiple
- Adolescent
- Adult
- Child
- Child, Preschool
- Cockayne Syndrome
- Female
- Genetic Complementation Test
- Humans
- Male
- Mutation
- Xeroderma Pigmentosum