Article
Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
The Journal of investigative dermatology - 1 Nov 1998
Khan S G, Levy H L, Legerski R, Quackenbush E, Reardon J T, Emmert S, Sancar A, Li L, Schneider T D, Cleaver J E, Kraemer K H
Abstract excerpt
A 4 y old boy of Korean ancestry had xeroderma pigmentosum (XP) with sun sensitivity, multiple cutaneous neoplasms, and inability to speak. Neurologic examination revealed hyperactivity and autistic features without typical XP neurologic abnormalities. Cultured skin fibroblasts (XP22BE) showed de...
Topics
- Alternative Splicing
- Autistic Disorder
- Blotting, Northern
- Child, Preschool
- Chromosomes, Human, Pair 3
- DNA
- DNA Repair
- DNA-Binding Proteins
- Fibroblasts
- Genetic Markers
- Glycine
- Humans
- Male
- Microsatellite Repeats
- Mutation