Linked Life Data

7718336

Source:http://linkedlifedata.com/resource/pubmed/id/7718336

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-5-24
pubmed:abstractText
Fanconi anaemia (FA) is an autosomal recessive disease featuring diverse clinical symptoms in addition to chromosomal instability and hypersensitivity to crosslinking agents. The much increased risk of FA patients developing leukaemia and squamous cell carcinomas makes FA an important model disease for cancer predisposition. Studies documenting the characteristics of FA cells and their response to environmental toxins have failed thus far to disclose the basic cellular process that is primarily disturbed in FA cells. Complementation analysis suggests that mutations in at least four different genes can cause FA (complementation groups FA-A to FA-D). The cDNA for FA-C has been cloned and found to encode a novel protein that localises to the cytoplasmic compartment of cells. Even though the protein's function is still unknown at present, research has now reached the point from where rapid progress to a detailed understanding of this syndrome may be foreseen.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0959-8049
pubmed:author
pubmed:issnType
Print
pubmed:volume
31A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
268-72
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed:year
1995
pubmed:articleTitle
Fanconi anaemia research: current status and prospects.
pubmed:affiliation
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't