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...

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Bibliografiska uppgifter
Huvudupphovsmän: Botta, E, Nardo, T, Broughton, B C, Marinoni, S, Lehmann, A R, Stefanini, M
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1998
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377495/
https://ncbi.nlm.nih.gov/pubmed/9758621
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