Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
โ Scribed by Broughton, Bernard C.; Steingrimsdottir, Herdis; Weber, Christine A.; Lehmann, Alan R.
- Book ID
- 109916229
- Publisher
- Nature Publishing Group
- Year
- 1994
- Tongue
- English
- Weight
- 688 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1061-4036
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๐ SIMILAR VOLUMES
Patient TTD183ME is male and has typical trichothiodystrophy characteristics, including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of NER carried out by a TTD183ME fibroblast cell strai
## 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 datab