(Q54627316)

1 June 2018

title

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. (English)

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1 June 2018

10

Peter Propping

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1 June 2018

author name string

Constanze Pagenstecher

1

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1 June 2018

Maria Wehner

2

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1 June 2018

Waltraut Friedl

3

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1 June 2018

Nils Rahner

4

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1 June 2018

Stefan Aretz

5

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1 June 2018

Nicolaus Friedrichs

6

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1 June 2018

Marlies Sengteller

7

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1 June 2018

Wolfram Henn

8

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1 June 2018

Reinhard Buettner

9

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1 June 2018

Elisabeth Mangold

11

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1 June 2018

publication date

8 December 2005

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1 June 2018

published in

Human Genetics

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1 June 2018

volume

119

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1 June 2018

issue

1-2

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1 June 2018

page(s)

9-22

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1 June 2018

https://scigraph.springernature.com/pub.10.1007/s00439-005-0107-8

exact match

0 references

cites work

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

1 reference

12 December 2020

A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families.

1 reference

12 December 2020

RNA analysis reveals splicing mutations and loss of expression defects in MLH1 and BRCA1.

1 reference

12 December 2020

Seven novel MLH1 and MSH2 germline mutations in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

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

1 reference

12 December 2020

Site directed mutagenesis of hMLH1 exonic splicing enhancers does not correlate with splicing disruption

1 reference

12 December 2020

Functional Significance and Clinical Phenotype of Nontruncating Mismatch Repair Variants of MLH1

1 reference

12 December 2020

Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

Listening to silence and understanding nonsense: exonic mutations that affect splicing

1 reference

12 December 2020

Missense Mutations in hMLH1 and hMSH2 Are Associated with Exonic Splicing Enhancers

1 reference

12 December 2020

ESEfinder: A web resource to identify exonic splicing enhancers

1 reference

12 December 2020

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

1 reference

12 December 2020

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

1 reference

12 December 2020

Genetic susceptibility to non-polyposis colorectal cancer

1 reference

12 December 2020

Clinical description of the Lynch syndrome [hereditary nonpolyposis colorectal cancer (HNPCC)].

1 reference

12 December 2020

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

1 reference

12 December 2020

Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes

1 reference

12 December 2020

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes

1 reference

12 December 2020

1 reference

12 December 2020

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer

1 reference

12 December 2020

10.1007/S00439-005-0107-8

Identifiers

DOI

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1 June 2018

PubMed ID

16341550

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1 June 2018