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

American Journal of Human Genetics

Volumn 63, Issue 4, 1998, Pages 1036-1048

  Botta, Elena ^a   Nardo, Tiziana ^a   Broughton, Bernard C ^b   Marinoni, Stefano ^c   Lehmann, Alan R ^b   Stefanini, Miria ^a,d  

^a Ist Genet Biochim ed E   (Italy)

^b UNIVERSITY OF SUSSEX   (United Kingdom)

^c Unit for Health Services Research and International Cooperation   (Italy)

^d Ist di Genctica Biochim ed E   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE SEVERITY; DNA REPAIR; DNA TRANSCRIPTION; FEMALE; GENE DOSAGE; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; INHERITANCE; ITALY; MALE; PHOTOSENSITIVITY; PRIORITY JOURNAL; TRICHOTHIODYSTROPHY; XERODERMA PIGMENTOSUM;

EID: 0032231836     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302063     Document Type: Article

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