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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Sonraí Bibleagrafaíochta
Main Authors: Botta, E, Nardo, T, Broughton, B C, Marinoni, S, Lehmann, A R, Stefanini, M
Formáid: Artigo
Teanga:Inglês
Foilsithe: 1998
Ábhair:
Research Article
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377495/
https://ncbi.nlm.nih.gov/pubmed/9758621
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