A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.

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A novel APC promoter 1B deletion shows a founder effect in Italian patients with classical familial adenomatous polyposis phenotype.

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2017年学术文章

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A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

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A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

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Item

label

A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

@en

A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

@nl

prefLabel

A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

@en

A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

@nl

P1476

A novel APC promoter 1B deleti ...... enomatous polyposis phenotype.

@en

P2093

Liliana Varesco

http://www.w3.org/2001/XMLSchema#string

Maria Teresa Ricci

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Monica Marabelli

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Orsetta Zuffardi

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Valentina Rea

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Viviana Gismondi

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P2860

Inherited colorectal cancer syndromes

Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS): a new autosomal dominant syndrome.

BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients.

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant.

Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes

Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

Genotype-phenotype correlations in 19 Dutch cases with APC gene deletions and a literature review.

Reduced expression of APC-1B but not APC-1A by the deletion of promoter 1B is responsible for familial adenomatous polyposis.

P304

846-854

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P31

scholarly article

P356

10.1002/GCC.22488

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P433

http://www.w3.org/2001/XMLSchema#string

P478

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P50

Annalisa Vetro

Marco Vitellaro

Guglielmina N Ranzani

Raefa Abou Khouzam

P577

2017-08-09T00:00:00Z

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P698

28791770

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