Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy: do the genes explain the diseases?
โ Scribed by Gilbert Chu; Lynn Mayne
- Book ID
- 113290126
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 547 KB
- Volume
- 12
- Category
- Article
- ISSN
- 0168-9525
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๐ SIMILAR VOLUMES
The human diseases xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy are caused by mutations in a set of interacting gene products, which carry out the process of nucleotide excision repair. The majority of the genes have now been cloned and many mutations in the genes identified. Th
Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families. We report three new XPB families: one has two sisters with relati