rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
11
|
pubmed:dateCreated |
1996-12-19
|
pubmed:abstractText |
Congenital hypertrophy of the retinal pigment epithelium (CHRPE) is the most common extracolonic manifestation of familial adenomatous polyposis (FAP) and is an early clinical marker of the disease. It seems to be correlated with the position of constitutional mutations of the adenomatous polyposis coli (APC) gene.
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
AIM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
0008-543X
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:day |
1
|
pubmed:volume |
78
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
2400-10
|
pubmed:dateRevised |
2006-11-15
|
pubmed:meshHeading |
pubmed-meshheading:8941012-Adenomatous Polyposis Coli,
pubmed-meshheading:8941012-Adolescent,
pubmed-meshheading:8941012-Adult,
pubmed-meshheading:8941012-Child,
pubmed-meshheading:8941012-Child, Preschool,
pubmed-meshheading:8941012-Exons,
pubmed-meshheading:8941012-Female,
pubmed-meshheading:8941012-Gene Deletion,
pubmed-meshheading:8941012-Genes, APC,
pubmed-meshheading:8941012-Germ-Line Mutation,
pubmed-meshheading:8941012-Humans,
pubmed-meshheading:8941012-Hypertrophy,
pubmed-meshheading:8941012-Male,
pubmed-meshheading:8941012-Middle Aged,
pubmed-meshheading:8941012-Pigment Epithelium of Eye,
pubmed-meshheading:8941012-Polymerase Chain Reaction,
pubmed-meshheading:8941012-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:8941012-Sensitivity and Specificity
|
pubmed:year |
1996
|
pubmed:articleTitle |
Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations.
|
pubmed:affiliation |
Dipartimento di Fisiopatologia Clinica, Universita di Firenze, Italy.
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|