Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. (Q54493225)

30 May 2018

title

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

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30 May 2018

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5

Joris Robert Vermeesch

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30 May 2018

author name string

Geneviève Michils

1

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30 May 2018

Sabine Tejpar

2

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30 May 2018

Reinhilde Thoelen

3

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30 May 2018

Eric van Cutsem

4

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Jean-Pierre Fryns

6

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Eric Legius

7

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Gert Matthijs

8

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publication date

1 February 2005

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30 May 2018

published in

Human Mutation

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30 May 2018

volume

25

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issue

2

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30 May 2018

page(s)

125-134

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30 May 2018

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

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An intrachromosomal insertion causing 5q22 deletion and familial adenomatous polyposis coli in two generations

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Standardizing mutation nomenclature: why bother?

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Three submicroscopic deletions at the APC locus and their rapid detection by quantitative-PCR analysis.

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7 January 2021

Maternal mosaicism for a second mutational event--a novel deletion--in a familial adenomatous polyposis family harboring a new germ-line mutation in the alternatively spliced-exon 9 region of APC

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Molecular, cytogenetic, and phenotypic studies of a constitutional reciprocal translocation t(5; I0)(q22; q25) responsible for familial adenomatous polyposis in a Dutch pedigree

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7 January 2021

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

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20122

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30 May 2018

PubMed ID

15643602

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30 May 2018