Linked Life Data

7920640

Source:http://linkedlifedata.com/resource/pubmed/id/7920640

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1994-11-9
pubmed:abstractText
DNA repair defects in the xeroderma pigmentosum (XP) group D complementation group can be associated with the clinical features of two quite different disorders; XP, a sun-sensitive and cancer-prone disorder, or trichothiodystrophy (TTD) which is characterized by sulphur-deficient brittle hair and a variety of other associated abnormalities, but no skin cancer. The XPD gene product, a DNA helicase, is required for nucleotide excision repair and recent evidence has demonstrated a role in transcription. We have now identified causative mutations in XPD in four TTD patients. The patients are all compound heterozygotes and the locations of the mutations enable us to suggest relationships between different domains in the gene and its roles in excision repair and transcription.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1061-4036
pubmed:author
pubmed:issnType
Print
pubmed:volume
7
pubmed:geneSymbol
ERCC2, XPD
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
189-94
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
pubmed:affiliation
MRC Cell Mutation Unit, University of Sussex, Falmer, Brighton, UK.
pubmed:publicationType
Journal Article