Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype (Q44886878)

7 December 2017

title

Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype (English)

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7 December 2017

Deborah W Neklason

1

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7 December 2017

Cindy H Solomon

2

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7 December 2017

Amy L Dalton

3

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7 December 2017

Scott K Kuwada

4

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7 December 2017

Randall W Burt

5

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7 December 2017

publication date

1 January 2004

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7 December 2017

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7 December 2017

volume

3

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7 December 2017

issue

1

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7 December 2017

page(s)

35-40

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Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death

7 December 2017

cites work

1 reference

12 December 2020

Whole-gene APC deletions cause classical familial adenomatous polyposis, but not attenuated polyposis or "multiple" colorectal adenomas

1 reference

12 December 2020

The identical 5' splice-site acceptor mutation in five attenuated APC families from Newfoundland demonstrates a founder effect

1 reference

12 December 2020

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

1 reference

12 December 2020

Notable intrafamilial phenotypic variability in a kindred with familial adenomatous polyposis and an APC mutation in exon 9.

1 reference

12 December 2020

Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP.

1 reference

12 December 2020

Attenuated familial adenomatous polyposis: an evolving and poorly understood entity

1 reference

12 December 2020

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

1 reference

12 December 2020

Alleles of the APC gene: an attenuated form of familial polyposis

1 reference

12 December 2020

Molecular diagnosis of familial adenomatous polyposis.

1 reference

12 December 2020

A targeted chain-termination mutation in the mouse Apc gene results in multiple intestinal tumors

1 reference

12 December 2020

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

1 reference

12 December 2020

Mutations in the APC tumour suppressor gene cause chromosomal instability

1 reference

12 December 2020

Genetic and clinical characterisation of familial adenomatous polyposis: a population based study

1 reference

12 December 2020

Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein

1 reference

12 December 2020

Lessons from hereditary colorectal cancer

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12 December 2020

Phenotypic expression of disease in families that have mutations in the 5' region of the adenomatous polyposis coli gene.

1 reference

12 December 2020

Attenuated APC alleles produce functional protein from internal translation initiation

1 reference

12 December 2020

Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene

1 reference

12 December 2020

Apc1638T: a mouse model delineating critical domains of the adenomatous polyposis coli protein involved in tumorigenesis and development

1 reference

12 December 2020

Dominant negative effect of the APC1309 mutation: a possible explanation for genotype-phenotype correlations in familial adenomatous polyposis.

1 reference

12 December 2020

Monoallelic mutation analysis (MAMA) for identifying germline mutations

1 reference

12 December 2020

Variable phenotype of familial adenomatous polyposis in pedigrees with 3' mutation in the APC gene

1 reference

12 December 2020

Cdc42 regulates GSK-3beta and adenomatous polyposis coli to control cell polarity

1 reference

12 December 2020

Alleles of APC modulate the frequency and classes of mutations that lead to colon polyps

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12 December 2020

10.1023/B:FAME.0000026824.85766.22

Identifiers

DOI

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Dimensions Publication ID

7 December 2017

1045233656

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