Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.
about
Attenuated APC alleles produce functional protein from internal translation initiation.Genotype-phenotype correlations in attenuated adenomatous polyposis coli.Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene.An unusually severe phenotype for familial adenomatous polyposisPhenotypic differences in familial adenomatous polyposis based on APC gene mutation status.Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP familiesFamilial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneityPrevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520.Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC geneThe genetic basis of colonic adenomatous polyposis syndromesGenetic analysis of the APC gene regions involved in attenuated APC phenotype in Israeli patients with early onset and familial colorectal cancerEpithelial-mesenchymal transition mediated tumourigenesis in the gastrointestinal tract.Molecular biomarkers in colorectal carcinoma.Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes.Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.Genetic dissection of the Mom5 modifier locus and evaluation of Mom5 candidate genes.Clinical findings in a family with familial adenomatous polyposis and a missense mutation of the adenomatous polyposis coli gene.
P2860
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P2860
Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@ast
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@en
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@nl
type
label
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@ast
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@en
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@nl
prefLabel
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@ast
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@en
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@nl
P2093
P2860
P356
P1433
P1476
Novel germline APC gene mutati ...... isplaying variable phenotypes.
@en
P2093
Brazzola PL
Hoppeler T
Martinoli S
van der Luijt R
P2860
P304
P356
10.1136/GUT.36.5.731
P407
P577
1995-05-01T00:00:00Z