(Q54340121)

28 May 2018

title

Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis. (English)

1 reference

28 May 2018

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7

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28 May 2018

Markus M Nöthen

10

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28 May 2018

Per Hoffmann

11

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28 May 2018

Elke Holinski-Feder

9

object named as

Elke Holinski-Feder

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28 May 2018

author name string

Isabel Spier

1

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28 May 2018

Sukanya Horpaopan

2

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28 May 2018

Stefanie Vogt

3

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28 May 2018

Siegfried Uhlhaas

4

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28 May 2018

Monika Morak

5

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28 May 2018

Dietlinde Stienen

6

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28 May 2018

Michael Ludwig

8

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28 May 2018

Stefan Aretz

12

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28 May 2018

language of work or name

English

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publication date

16 April 2012

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28 May 2018

published in

Human Mutation

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28 May 2018

volume

33

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28 May 2018

issue

7

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28 May 2018

page(s)

1045-1050

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28 May 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22082

Analysis of canonical and non-canonical splice sites in mammalian genomes

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22082

Mutation deep within an intron of MSH2 causes Lynch syndrome

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.22082

Pre-mRNA splicing and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

A distinct mutation on the alternative splice site of APC exon 9 results in attenuated familial adenomatous polyposis phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Alternative splicing of Alu exons--two arms are better than one

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Familial Adenomatous Polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Alu elements as regulators of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Sensitive multistep clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

MUTYH-associated polyposis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Genomic rearrangements of the APC tumor-suppressor gene in familial adenomatous polyposis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Large intron 14 rearrangement in APC results in splice defect and attenuated FAP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

Germline hypermethylation of the APC promoter is not a frequent cause of familial adenomatous polyposis in APC/MUTYH mutation negative families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

A G-->A transition creates a branch point sequence and activation of a cryptic exon, resulting in the hereditary disorder neurofibromatosis 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

7 January 2021

A deep intronic mutation in the RB1 gene leads to intronic sequence exonisation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

7 January 2021

Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

7 January 2021

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22082

7 January 2021

Identifiers

DOI

10.1002/HUMU.22082

1 reference

28 May 2018

1 reference

28 May 2018