A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
about
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutationsPMS2 monoallelic mutation carriers: the known unknownCombined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group StudyComprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Germline mutation analysis of hPMS2 gene in Chinese families with hereditary nonpolyposis colorectal cancer.Identification of nuclear protein targets for six leukemogenic tyrosine kinases governed by post-translational regulation.The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial diseasePrevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer.Prostate cancer incidence in males with Lynch syndromeAssociation of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.An American founder mutation in MLH1.Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Recurrent and founder mutations in the PMS2 gene.Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.Follow-up recommendations and risk-reduction initiatives for Lynch syndrome.Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.Haplotype analysis suggest that the MLH1 c.2059C > T mutation is a Swedish founder mutation.Genetic intersection of male infertility and cancer.Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.Lynch syndrome: history, causes, diagnosis, treatment and prevention (CAPP2 trial).Characterization of a novel founderMSH6mutation causing Lynch syndrome in the French Canadian population
P2860
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P2860
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@ast
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@en
type
label
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@ast
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@en
prefLabel
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@ast
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@en
P2093
P2860
P50
P356
P1476
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome.
@en
P2093
A de la Chapelle
D Buchanan
K Lagerstedt Robinson
M Clendenning
P2860
P304
P356
10.1136/JMG.2007.056150
P407
P577
2008-01-04T00:00:00Z