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Point mutation
Publication
Class
Person
Publication
Programmes
publication
Analysis of point mutations in the SMN1 gene in SMA patients bearing a single SMN1 copy
2007 |
Second Faculty of Medicine
publication
Point mutations in Czech DMD/BMD patients and their phenotypic outcome
2009 |
Second Faculty of Medicine
publication
Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma
2021 |
Faculty of Medicine in Pilsen
publication
FOUR NOVEL POINT MUTATIONS IN THE PMP22 GENE WITH PHENOTYPES OF HNPP AND DEJERINE-SOTTAS NEUROPATHY
2011 |
First Faculty of Medicine
publication
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy
2011 |
First Faculty of Medicine, Faculty of Physical Education and Sport, Second Faculty of Medicine
publication
Microphthalmia and cataract in rats with a novel point mutation in connexin 50-L7Q
2008 |
First Faculty of Medicine
publication
Presence of K-ras gene point mutations in colon polyps
1999 |
Faculty of Medicine in Hradec Králové
publication
A Relationship between Single Point Mutation of the Matrix Protein from Mason-Pfizer Monkey Virus and Its Three-Dimensional Structure
2003 |
Faculty of Mathematics and Physics
publication
Rapid Detection of Point Mutation in the Precore Region of HBV DNA
Publication without faculty affiliation
publication
Detection of Point Mutation of Ki-rad Gene by PCR Technology.
1998 |
Faculty of Physical Education and Sport
publication
A point mutation in human coilin prevents Cajal body formation
2022 |
Faculty of Science
publication
The occurence of point mutations in codon 13 of the K-ras gene by colorectal tumours
2002 |
Faculty of Medicine in Hradec Králové
publication
Detection of point mutations in the K-ras gene in bioptic specimens of colorectal carcinoma
Publication without faculty affiliation
publication
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
2014 |
First Faculty of Medicine
publication
Point mutations in human guanylate kinase account for acquired resistance to anticancer nucleotide analogue PMEG
2011 |
Faculty of Science
publication
Detection of the point mutations in Kirsten ras gene using an LNA-clamping PCR method
+1
Publication without faculty affiliation
publication
Detection of somatic point mutations in the Ki-ras gene with LNA-clamping PCR
+1
Publication without faculty affiliation
publication
Clinical and pathological significance of the presence of K-ras gene point mutations in colorectal adenomas
Publication without faculty affiliation
publication
Analysis of point mutations in interleukin-11 in the population of infertile patients and fertile control women
2014 |
Faculty of Medicine in Pilsen
publication
Ultrastructural changes of mitochondria in the cultivated skin fibroblasts of patients with point mutations in mitochondrial DNA
2006 |
First Faculty of Medicine
publication
Eight amino acids form the ATP recognition site of Na+/K+-ATPase.
2003 |
Faculty of Science
publication
Characteristic of the point mutation G8363A tRNA (Lys) in the mitochondrial DNA morphology and biochemistry a level
Publication without faculty affiliation
publication
Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain
2014 |
First Faculty of Medicine
publication
Detection of point mutations in Kirsten ras 2 gene using Locked Nucleic Acids clamped PCR
2007 |
Publication without faculty affiliation
publication
Detection of point mutations in Kirsten ras 2 gene using Locked Nucleic Acids clamped PCR
+1
2007 |
Faculty of Medicine in Hradec Králové
publication
Detection of point mutations in Kirsten ras 2 gene using Locked Nucleic Acids clamped PCR
2007 |
First Faculty of Medicine
publication
Protein-Ligand Interactions in the STING Binding Site Probed by Rationally Designed Single-Point Mutations: Experiment and Theory
2021 |
Faculty of Science, Central Library of Charles University