A human compound heterozygote for two MLH1 missense mutations

2
© 1997 Nature Publishing Group http://www.nature.com/naturegenetics

Transcript of A human compound heterozygote for two MLH1 missense mutations

Page 1: A human compound heterozygote for two MLH1 missense mutations

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

Page 2: A human compound heterozygote for two MLH1 missense mutations

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


Comprehensive Analysis of Missense Variations - Cancer Research

Comprehensive Analysis of Missense Variations - Cancer Research

Burden analysis of missense variants in 1,330 disease ... · sequencing studies can identify such protein-altering missense variants; however, the missing knowledge about the consequence

Burden analysis of missense variants in 1,330 disease ... · sequencing studies can identify such protein-altering missense variants; however, the missing knowledge about the consequence

Novel Splicing, Missense, and Deletion Mutations in Seven ...dm5migu4zj3pb.cloudfront.net/manuscripts/116000/116833/JCI9311… · Novel Splicing, Missense, and Deletion Mutations

Novel Splicing, Missense, and Deletion Mutations in Seven ...dm5migu4zj3pb.cloudfront.net/manuscripts/116000/116833/JCI9311… · Novel Splicing, Missense, and Deletion Mutations

MLH1 and MSH2 - Hindawi Publishing Corporation · 2019. 7. 30. · Research Article Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome JoseMiguelMoreno-Ortiz,

MLH1 and MSH2 - Hindawi Publishing Corporation · 2019. 7. 30. · Research Article Novel Mutations in MLH1 and MSH2 Genes in Mexican Patients with Lynch Syndrome JoseMiguelMoreno-Ortiz,

MLH1 and HNPCC

MLH1 and HNPCC

MLH1 and Hereditary Non-polyposis Colon Cancer

MLH1 and Hereditary Non-polyposis Colon Cancer

Predicting the impact of Lynch syndrome-causing missense ......RESEARCH ARTICLE Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations Sofie

Predicting the impact of Lynch syndrome-causing missense ......RESEARCH ARTICLE Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations Sofie

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation ... · Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene Ji Young Choi,

Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation ... · Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene Ji Young Choi,

In Vitro Characterization of MSH2-MSH6 and MLH1-PMS2 ...

In Vitro Characterization of MSH2-MSH6 and MLH1-PMS2 ...

A missense mutation in SNRPE linked to non-syndromal ...

A missense mutation in SNRPE linked to non-syndromal ...

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

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

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

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

Missense mutations in ITPR1 cause autosomal dominant congenital

Missense mutations in ITPR1 cause autosomal dominant congenital

Type IV procollagen missense mutations associated with defects

Type IV procollagen missense mutations associated with defects

Assessment of missense alterations in MLH1 and their ......Pethe, Miralem Mrkonjic, George Charames, Ken Kron, Jamie Rawson, Liyang Liu, Brian Li, Ted Chappell, Roula Raptis, Pinella

Assessment of missense alterations in MLH1 and their ......Pethe, Miralem Mrkonjic, George Charames, Ken Kron, Jamie Rawson, Liyang Liu, Brian Li, Ted Chappell, Roula Raptis, Pinella

Toward Classification of BRCA1 Missense Variants Using a

Toward Classification of BRCA1 Missense Variants Using a

Where a heterozygote has a phenotype intermediate between the corresponding homozygote phenotypes.

Where a heterozygote has a phenotype intermediate between the corresponding homozygote phenotypes.

Massively parallel functional analysis of missense mutations in … · Massively parallel functional assays for assessing function of missense variants Generate a library with mutations

Massively parallel functional analysis of missense mutations in … · Massively parallel functional assays for assessing function of missense variants Generate a library with mutations

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

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

Noddy, a Mouse Harboring a Missense Mutation in Protocadherin ...

Noddy, a Mouse Harboring a Missense Mutation in Protocadherin ...