Linked Life Data

18176357

Source:http://linkedlifedata.com/resource/pubmed/id/18176357

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
2008-1-7
pubmed:abstractText
Familial Adenomatous Polyposis (FAP) and Attenuated FAP (AFAP) are caused by a germline mutation in the Adenomatous polyposis coli (APC) gene. Recently, a new pathway characterized by a biallelic mutation in the MYH gene, with a recessive model of inheritance was discovered for this inherited syndrome. This report describes a Tunisian patient with an attenuated FAP phenotype, presenting seven colon polyps and an adenocarcinoma but no detectable germline mutations in the FAP target genes. A well known somatic mutation was found in the APC mutation cluster region (MCR). This case shows that further studies are needed to fully understand all the pathways of the FAP syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0399-8320
pubmed:author
pubmed:issnType
Print
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1062-6
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
Do we know all there is to know about Familial Adenomatous Polyposis?
pubmed:affiliation
Laboratoire de génétique, immunologie et pathologies humaines, Faculté des sciences de Tunis, Campus universitaire, Tunis, Tunisie. karim.bougaterf@fst.rnu.tn
pubmed:publicationType
Journal Article, Case Reports