Linked Life Data

8252631

Source:http://linkedlifedata.com/resource/pubmed/id/8252631

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1994-1-10
pubmed:abstractText
In humans, alteration of the tumor suppressor gene, APC, causes adenomatous polyposis coli, a condition causing predisposition to colorectal cancer. The syndrome inconsistently associates characteristic patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE). Ocular examination revealed that patients expressing CHRPE tend to cluster within specific families. The exact APC mutation was identified in 42 unrelated patients. In all cases these mutations were predicted to lead to the synthesis of a truncated protein. The extent of CHRPE was found to be dependent on the position of the mutation along the coding sequence. CHRPE lesions are almost always absent if the mutation occurs before exon 9, but are systematically present if it occurs after this exon. Thus, the range of phenotypic expression observed among affected patients may result in part from different allelic manifestations of APC mutations.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0092-8674
pubmed:author
pubmed:issnType
Print
pubmed:day
3
pubmed:volume
75
pubmed:geneSymbol
APC
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
959-68
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.
pubmed:affiliation
Laboratoire de Génétique des Tumeurs Institut Curie, Paris, France.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't