A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family (Q83879729)

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28 January 2020

title

A novel exon duplication event leading to a truncating germ-line mutation of the APC gene in a familial adenomatous polyposis family (English)

1 reference

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familial adenomatous polyposis

28 January 2020

main subject

1 reference

5

Ian Tomlinson

1 reference

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28 January 2020

2

Andrew Latchford

1 reference

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28 January 2020

author name string

Amy McCart

1

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28 January 2020

Emmanouil Volikos

3

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28 January 2020

Andrew Rowan

4

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28 January 2020

Andrew Silver

6

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28 January 2020

publication date

1 January 2006

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28 January 2020

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28 January 2020

volume

5

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28 January 2020

issue

2

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28 January 2020

page(s)

205-208

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https://scigraph.springernature.com/pub.10.1007/s10689-006-7471-y

28 January 2020

exact match

0 references

cites work

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis patients

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

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

1 reference

12 December 2020

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

1 reference

12 December 2020

Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study.

1 reference

12 December 2020

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

1 reference

12 December 2020

Exon 3 beta-catenin mutations are specifically associated with colorectal carcinomas in hereditary non-polyposis colorectal cancer syndrome

1 reference

12 December 2020

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

1 reference

12 December 2020

Evidence for adenoma-carcinoma sequence in the duodenum of patients with familial adenomatous polyposis. The Leeds Castle Polyposis Group (Upper Gastrointestinal Committee)

1 reference

12 December 2020

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

1 reference

12 December 2020

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

1 reference

12 December 2020

An Alu Transposition Model for the Origin and Expansion of Human Segmental Duplications

1 reference

12 December 2020

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

1 reference

12 December 2020

Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition

1 reference

12 December 2020