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amino-acid substitution
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publication
RhD variants with amino acid substitutions at the Rh vestibule : DCS-1; DCS-2 and DFV
Publication without faculty affiliation
publication
Evolution of moth sex pheromone composition by a single amino acid substitution in a fatty acid desaturase
2015 |
Faculty of Pharmacy in Hradec Králové
publication
DCS-1, DCS-2 and DFV share amino acid substitutions at the RhD protein vestibule
Publication without faculty affiliation
publication
Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase
2017 |
Third Faculty of Medicine
publication
High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency
2012 |
First Faculty of Medicine
publication
In-depth proteomic analysis of Varroa destructor: Detection of DWV-complex, ABPV, VdMLV and honeybee proteins in the mite
2015 |
Publication without faculty affiliation
publication
PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
2014 |
Second Faculty of Medicine
publication
Catalytic Effects of Mutations of Distant Protein Residues in Human DNA Polymerase beta: Theory and Experiment
2012 |
Faculty of Science
publication
Photosynthetic characteristics and molecular basis of resistance to atrazine in a Czech biotype of redroot pigweed
2006 |
Faculty of Science
publication
Characterization of Haemophilus influenzae Strains with Non-Enzymatic Resistance to β-Lactam Antibiotics Caused by Mutations in the PBP3 Gene in the Czech Republic in 2010-2018
2021 |
Third Faculty of Medicine, Faculty of Medicine in Hradec Králové
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Clostridium difficile ribotype 176-A predictor for high mortality and risk of nosocomial spread?
2016 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
BCR-ABL mutation analysis allows to provide "tailors therapy" for CML patients resistant to imatinib
2010 |
Faculty of Medicine in Hradec Králové
publication
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes
+1
2023 |
Faculty of Science, First Faculty of Medicine
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Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood
2022 |
Second Faculty of Medicine
publication
A point mutation in human coilin prevents Cajal body formation
2022 |
Faculty of Science
publication
Convergent evolution of SARS-CoV-2 Omicron subvariants leading to the emergence of BQ.1.1 variant
2023 |
First Faculty of Medicine
publication
Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency
2011 |
First Faculty of Medicine
publication
Impact of mismatching CD1a, a dimorphic antigen-presenting molecule, on graft-versus-host disease after hematopoietic stem cell transplantation
2006 |
Second Faculty of Medicine
publication
Mutations in the LMNA gene do not cause axonal CMT in Czech patients
2009 |
Second Faculty of Medicine
publication
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
2017 |
Second Faculty of Medicine
publication
Single Amino Acid Change in Metallothionein Metal-Binding Cluster Influences Interaction with Cisplatin
2013 |
Faculty of Science, Second Faculty of Medicine
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Single Amino Acid Change in Metallothionein Metal-Binding Cluster Influences Interaction with Cisplatin
2013 |
Publication without faculty affiliation
publication
Somatic mutations of KIT in familial testicular germ cell tumours
2004 |
Publication without faculty affiliation
publication
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
2014 |
Second Faculty of Medicine
publication
Conplastic Strains for Identification of Retrograde Effects of Mitochondrial DNA Variation on Cardiometabolic Traits in the Spontaneously Hypertensive Rat
2021 |
Faculty of Science, Central Library of Charles University
publication
Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity
1995 |
Central Library of Charles University
publication
Retinitis pigmentosa-linked mutation in DHX38 modulates its splicing activity
2022 |
Faculty of Science, Central Library of Charles University
publication
The Colonisation of Calves in Czech Large-Scale Dairy Farms by Clonally-Related Clostridioides difficile of the Sequence Type 11 Represented by Ribotypes 033 and 126
2020 |
Second Faculty of Medicine
publication
MISCAST: MIssense variant to protein StruCture Analysis web SuiTe
2020 |
Faculty of Mathematics and Physics