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© 1997 Nature Publishing Group http://www.nature.com/naturegenetics
HNPCC and MLH1 Qi Peng Cancer Biology March 30 th, 2006
Functional Analyses of Four CYP1A1 Missense Mutations
A Heterozygous Missense Variant in MAP2K2 in a Stillborn
Class III Malocclusion: Missense Mutations in DUSP6 Gene
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
A missense mutation in SNRPE linked to non-syndromal
Functional characterization of DYRK1A missense variants ... · Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency
Massively parallel functional analysis of missense
Novel Splicing, Missense, and Deletion Mutations in Seven ...dm5migu4zj3pb.cloudfront.net/manuscripts/116000/116833/JCI9311… · Novel Splicing, Missense, and Deletion Mutations
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
Missense mutations in the SH3TC2 protein causing Charcot-Marie
Missense mutation in the ATPase ... - yoksis.bilkent.edu.tr
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
Heterozygous missense mutations in SMARCA2 cause ... · Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome Jeroen K. J. Van Houdt, Beata Anna Nowakowska,
MLH1/PMS2 Expression Could Tell Classical NTRK Fusion in
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
Comprehensive Analysis of Missense Variations - Cancer Research
VENTANA anti-MLH1 (M1) Mouse Monoclonal Primary Antibody
Type IV procollagen missense mutations associated with defects
BAP1 Missense Mutation c.2054 A>T (p.E685V) Completely
Missense mutations in ITPR1 cause autosomal dominant congenital
MLH1 deficiency leads to deregulated mitochondrial metabolism · 2019. 12. 11. · MLH1 loss is associated with decreased mitochondrial bioenergetics Our previous studies have suggested
Massively parallel functional analysis of missense mutations in … · Massively parallel functional assays for assessing function of missense variants Generate a library with mutations
A Novel Missense Mutation of Wilms’ Tumor 1 Causes
A Missense LAMB2 Mutation Causes Congenital Nephrotic ... · A Missense LAMB2 Mutation Causes Congenital Nephrotic Syndrome by Impairing Laminin Secretion Ying Maggie Chen,* Yamato
Missense mutations in the pancreatic beta-cell ATP
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
Hypomagnesemia with Secondary Hypocalcemia due to a Missense
Identification of missense mutation (G365R) of the butyrylcho
MLH1 and HNPCC