Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis (Q30991987)

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English	Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis	scientific article

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scholarly article

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Europe PubMed Central

PMC publication ID

29 September 2017

Identification of 5 novel germline APC mutations and characterization of clinical phenotypes in Japanese patients with classical and attenuated familial adenomatous polyposis (English)

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Europe PubMed Central

PMC publication ID

29 September 2017

Attenuated familial adenomatous polyposis

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Kazuya Shinmura

2

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Europe PubMed Central

PMC publication ID

29 September 2017

author name string

Hong Tao

1

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29 September 2017

Hidetaka Yamada

3

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29 September 2017

Masato Maekawa

4

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29 September 2017

Satoshi Osawa

5

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29 September 2017

Yasuhiro Takayanagi

6

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29 September 2017

Kazuya Okamoto

7

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29 September 2017

Tomohiro Terai

8

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29 September 2017

Hiroki Mori

9

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29 September 2017

Toshio Nakamura

10

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29 September 2017

Haruhiko Sugimura

11

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29 September 2017

publication date

16 November 2010

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29 September 2017

BMC Research Notes

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29 September 2017

3

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29 September 2017

305

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29 September 2017

copyright license

Creative Commons Attribution 2.0 Generic

16 November 2010

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April 2022 Public Data File from Crossref

copyright status

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April 2022 Public Data File from Crossref

describes a project that uses

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Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2994888/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

EML4-ALK fusion transcripts in immunohistochemically ALK-positive non-small cell lung carcinomas.

1 reference

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21 June 2018

Nature meets nurture: molecular genetics of gastric cancer.

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21 June 2018

Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families

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21 June 2018

Identification and characterization of a novel germ line p53 mutation in familial gastric cancer in the Japanese population

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APC mutations in FAP-associated desmoid tumours are non-random but not 'just right'.

1 reference

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Attenuated familial adenomatous polyposis (AFAP). A review of the literature

1 reference

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ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

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Attenuated APC alleles produce functional protein from internal translation initiation

1 reference

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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family

1 reference

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21 June 2018

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21 June 2018

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

1 reference

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21 June 2018

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

1 reference

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21 June 2018

Gastric adenocarcinoma and dysplasia in fundic gland polyps of a patient with attenuated adenomatous polyposis coli

1 reference

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21 June 2018

Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC

1 reference

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21 June 2018

Upper gastrointestinal cancer in familial adenomatous polyposis.

1 reference

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21 June 2018

Identification and characterization of the familial adenomatous polyposis coli gene

1 reference

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21 June 2018

Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients

1 reference

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21 June 2018

Gastroduodenal polyps in patients with familial adenomatous polyposis

1 reference

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21 June 2018

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

1 reference

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21 June 2018

Different phenotype manifestation of familial adenomatous polyposis in families with APC mutation at codon 1309.

1 reference

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25 November 2018

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations

1 reference

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A missense mutation in the APC tumor suppressor gene disrupts an ASF/SF2 splicing enhancer motif and causes pathogenic skipping of exon 14.

1 reference

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Association between genetic polymorphisms of the base excision repair gene MUTYH and increased colorectal cancer risk in a Japanese population

1 reference

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Difference in characteristics of APC mutations between colonic and extracolonic tumors of FAP patients: variations with phenotype.

1 reference

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Gastric carcinogenesis after long-term observation of clinical course without any treatment in a patient with attenuated familial adenomatous polyposis

1 reference

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25 November 2018

Familial Adenomatous Polyposis

1 reference

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Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.

1 reference

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A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus.

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

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

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Genetic predisposition to clinical manifestations in familial adenomatous polyposis with special reference to duodenal lesions

1 reference

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The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis

1 reference

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based on heuristic

inferred from PubMed ID database lookup

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10.1186/1756-0500-3-305

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Europe PubMed Central

PMC publication ID

29 September 2017

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9 September 2019

https://scigraph.springernature.com/pub.10.1186/1756-0500-3-305

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Europe PubMed Central

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29 September 2017

PubMed publication ID

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Europe PubMed Central

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29 September 2017

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