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scopus: 6602494039

Nardo, T.

(Tiziana Nardo)


patient repair incidence c 7orf mutation trichothiodystrophy xeroderma pigmentosum number stefanini deletion xeroderma dna repair pigmentosum country defect tfiih disease lehmann germany syndrome r e p i r 7 disorder level c 7orf gene italy netherland study patient ttd 31pv cockayne syndrome genet xp /cs nonphotosensitive feature ttd patients jasper genomic 5 countries group dna repair defect cockayne protein region livebirth xp patients birth period analysis autochthonic population synthesis table allele subunit transcription nonphotosensitive form centre botta kleijer laboratory immigrant codon vermeulen nakabayashi diagnosis severity photosensitivity dna repair disorder deletion c .148_152delcacac c 7orf alleles dna repair disorders c 7orf protein n.g.j university patient ttd 16pv clinician cs patients ttd 10ro ttdn 1 primers




2 Most Recent Publications

Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy (Article)
Kleijer, W.J. Laugel, V. Berneburg, M. Nardo, T. Fawcett, H. Gratchev, A. Jaspers, N.G.J. Sarasin, A. Stefanini, M. Lehmann, A.R.
2008-05-03
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: No obvious genotype-phenotype relationships (Article)
Botta, E. Offman, J. Sarasin, A. Lehmann, A.R. Stefanini, M. Nardo, T. Ricotti, R. Zambruno, G. Sansone, D. Balestri, P. Raams, A. Kleijer, W.J. Jaspers, N.G.J.
2007-01-01