A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
about
Postreplicative mismatch repair.Inter-individual variation in DNA repair capacity: a need for multi-pathway functional assays to promote translational DNA repair researchSuspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicityApplication of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancerOligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.Inactivation of DNA mismatch repair by variants of uncertain significance in the PMS2 gene.Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance.Comprehensive functional assessment of MLH1 variants of unknown significance.
P2860
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P2860
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants.
description
2011 nî lūn-bûn
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2011年の論文
@ja
2011年学术文章
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2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
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2011年學術文章
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name
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@en
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@nl
type
label
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@en
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@nl
prefLabel
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@en
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@nl
P2093
P2860
P356
P1433
P1476
A rapid and cell-free assay to ...... H2 and MSH6 missense variants.
@en
P2093
José B M Zonneveld
Mark Drost
Niels de Wind
Sandrine van Hees
P2860
P304
P356
10.1002/HUMU.22000
P577
2011-12-29T00:00:00Z