(Q34547820)

2 August 2017

title

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. (English)

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2 August 2017

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Anne-Marie Gerdes

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Anne Tybjærg-Hansen

4

object named as

Anne Tybjaerg-Hansen

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2 August 2017

Wael M Abdel-Rahman

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Päivi Peltomäki

object named as

Päivi Peltomäki

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author name string

Tiina E Raevaara

1

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2 August 2017

Karin E Lönnqvist

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2 August 2017

Reetta Kariola

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2 August 2017

Minna Nyström-Lahti

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2 August 2017

publication date

1 July 2004

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Genes, Chromosomes and Cancer

2 August 2017

published in

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2 August 2017

volume

40

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2 August 2017

issue

3

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2 August 2017

page(s)

261-265

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Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis

2 August 2017

cites work

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Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer

21 January 2018

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Mutation in the mismatch repair gene Msh6 causes cancer susceptibility

21 January 2018

1 reference

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC)--results of an international collaborative study

21 January 2018

1 reference

Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair

21 January 2018

1 reference

Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer

21 January 2018

1 reference

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

21 January 2018

1 reference

Timing is everything: especially with loss of tumor suppressor genes

21 January 2018

1 reference

Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation

21 January 2018

1 reference

Multiple roles of prolyl residues in structure and folding

21 January 2018

1 reference

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein

21 January 2018

1 reference

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

21 January 2018

1 reference

7 January 2021

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

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7 January 2021

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

1 reference

7 January 2021

Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

1 reference

7 January 2021

Identifiers

DOI

10.1002/GCC.20040

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2 August 2017

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