Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retardation. Clinical photosensitivity is present in approximately 50% of TTD patients but is not associated with an elevated f...

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Autors principals: Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A.
Format: Artigo
Idioma:Inglês
Publicat: 1996
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914548/
https://ncbi.nlm.nih.gov/pubmed/8571952
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