Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.

Xeroderma pigmentosum (XP) complementation group D is a heterogeneous group, containing patients with XP alone, rare cases with both XP and Cockayne syndrome, and patients with trichothiodystrophy (TTD). TTD is a rare autosomal recessive multisystem disorder associated, in many patients, with a defe...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: Botta, E, Nardo, T, Broughton, B C, Marinoni, S, Lehmann, A R, Stefanini, M
Format: Artigo
Langue:Inglês
Publié: 1998
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377495/
https://ncbi.nlm.nih.gov/pubmed/9758621
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires