Article
Severe neurological abnormalities associated with a mutation in the zinc-finger domain in a group A xeroderma pigmentosum patient.
The British journal of dermatology - 1 Oct 1994
Maeda T, Sato K, Minami H, Taguchi H, Yoshikawa K
Abstract excerpt
All the reported Japanese patients with group A xeroderma pigmentosum (XP) have two or three mutations at codon 116 in exon 3, codon 228 in exon 6, and the splicing acceptor site of intron 3 of XP group A complementing (XPAC) gene. A homozygote (XP39OS) with a nonsense mutation at codon 228 has l...
Topics
- Base Sequence
- Cell Survival
- Codon
- Female
- Fibroblasts
- Homozygote
- Humans
- Infant
- Molecular Sequence Data
- Mutation
- Nervous System Diseases
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Ultraviolet Rays
- Xeroderma Pigmentosum
- Zinc Fingers