A human compound heterozygote for two MLH1 missense mutations

Preview:

Click to see full reader

Citation preview

© 1997 Nature Publishing Group http://www.nature.com/naturegenetics

© 1997 Nature Publishing Group http://www.nature.com/naturegenetics

Recommended

MLH1 deficiency leads to deregulated mitochondrial metabolism · 2019. 12. 11. · MLH1 loss is associated with decreased mitochondrial bioenergetics Our previous studies have suggested
Documents
Functional Characterization of a Missense Variant of MLH1 … · 2020. 1. 29. · Research Article Functional Characterization of a Missense Variant of MLH1 Identified in Lynch Syndrome
Documents
Clinical Studies Cancer Research MLH1 Founder Mutations ...rosenberglab.stanford.edu/papers/BorrasEtAl2010-CancerRes.pdf · Clinical Studies MLH1 Founder Mutations with Moderate Penetrance
Documents
Toward Classification of BRCA1 Missense Variants Using a
Documents
Genetic testing in the laboratory · PLA2G4C 2 Missense F5.1, F11.1 PLCB3 1 Missense F7.1 PRKD1 1 Splicing F7.1 PTPRC 1 Splicing F1.1 UNC13A 2 Inframe deletion, Missense F1.1, F8.1
Documents
A Novel Missense Mutation of Wilms’ Tumor 1 Causes
Documents
Where a heterozygote has a phenotype intermediate between the corresponding homozygote phenotypes
Documents
Missense Mutations in the Homeodomain of HOXD13 Are Associated
Documents
Functional characterization of DYRK1A missense variants ... · Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency
Documents
Noddy, a Mouse Harboring a Missense Mutation in Protocadherin
Documents
Patterns of recombination and MLH1 foci density along ... · 1 Patterns of recombination and MLH1 foci density along mouse chromosomes: modeling effects of interference and obligate
Documents
Lipoprotein profiles in human heterozygote carriers of a …liu.diva-portal.org/smash/get/diva2:872193/FULLTEXT01.pdf · 2016-03-11 · Lipoprotein profiles in human heterozygote
Documents
MLH1 and Hereditary Non-Polyposis Colorectal Cancer
Documents
Heterozygous missense mutations in SMARCA2 cause ... · Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Jeroen K. J. Van Houdt, Beata Anna Nowakowska,
Documents
A missense mutation in SNRPE linked to non-syndromal
Documents
MLH1 Antibody - Cell Applications, Inc. · 2020. 2. 7. · MLH1 Antibody Cat. No. CP10170 Applications: Detected MW: Species & Reactivity: Isotype: WB, IP, IHC, ICC 85 kDa Human,
Documents
Open Research Onlineoro.open.ac.uk/52279/7/epigenomes-01-00018-v2.pdfrs734005 T > C, intron TC heterozygote Gastric cancer 0.799 0.642–0.995 0.045 [31] rs2302427 G > C, exon, missense
Documents
Prevalence and spectrum of MLH1, MSH2, and MSH6 pathogenic
Documents
A missense mutation in ITGB6 causes pitted …eprints.whiterose.ac.uk/80650/1/A missense mutation in ITGB6 causes... · ameloblast-ameloblast interactions and proteolytic processing
Documents
Empirical Evidence for Heterozygote Advantage in …...2016/05/16  · Empirical evidence for heterozygote advantage in adapting diploid populations of Saccharomyces cerevisiae Diamantis
Documents