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Trichothiodystrophy "3," photosensitive
- ... Testing Registry: Trichothiodystrophy 2, photosensitive Genetic Testing Registry: Trichothiodystrophy 3, photosensitive Genetic Testing Registry: Trichothiodystrophy 5, nonphotosensitive Genetic Testing ...
- ... than 20 percent of all cases of non-photosensitive trichothiodystrophy.All of the known MPLKIP gene variants prevent ... TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am J Hum Genet. 2005 Mar;76(3):510-6. doi: 10.1086/428141. Epub 2005 ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. It is ... TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder. Nat Genet. 2000 Nov;26(3):307-13. doi: 10.1038/81603. Citation on ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. Other features ... account for the different features of xeroderma pigmentosum, trichothiodystrophy, and XP/CS complex. ... BTF2 BTF2 p89 DNA excision repair protein ERCC-3 DNA repair protein complementing XP-B cells ERCC3_ ...
- ... problems with DNA repair cause people with the photosensitive form of trichothiodystrophy to be extremely sensitive to sunlight. Other features ... CE, Lambert MW. Xeroderma pigmentosum: its overlap with trichothiodystrophy, ... gene: one gene, two functions, three diseases. Genes Dev. 2001 Jan 1;15(1): ...