Trichothiodystrophy, a transcription syndrome

Trichothiodystrophy (TTD) is a rare genetic disorder characterized by a hair dysplasia and associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. About half of TTD patients exhibit photosensitivity because their nucleotide-excision repair pathway (NER) does not rem...

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Veröffentlicht in:	Trends in Genetics 2001-05, Vol.17 (5), p.279-286
Hauptverfasser:	Bergmann, Etienne, Egly, Jean-Marc
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biochemistry, Molecular Biology Biological and medical sciences Cockayne syndrome Dermatology DNA Helicases DNA Repair - genetics DNA-Binding Proteins - genetics Hair and nails disorders Hair Diseases - genetics Humans Ichthyosis - genetics Life Sciences Medical sciences Neurocutaneous Syndromes - genetics neuroectoderm Phenotype Photosensitivity Disorders - genetics Proteins - genetics TFIIH TFIIH protein Transcription Factor TFIIH Transcription Factors - genetics Transcription Factors, TFII Transcription, Genetic - genetics Trichothiodystrophy Ultraviolet Rays xeroderma pigmentosum Xeroderma Pigmentosum Group D Protein XPB XPB gene XPD XPD gene
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