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This mutation, confirmed by Sanger sequencing, was not present in 348 controls and in the patient's mother, father and young brother, all of whom are normoglycemic.
K530A and N757F mutations were introduced into human RB cDNA via PCR-mediated mutagenesis and the resulting mutation confirmed by DNA sequencing.
In the analysis of new patients addressed to our laboratories for MPD diagnosis, 9 out of 35 patients presenting with an increased hematocrit, low Epo levels and absence of the JAK2 V617F mutation, harboured a mutation confirmed by sequencing analysis.
All mutation analyses included positive and negative controls for the mutation, confirmed by sequencing (fig. 2).
MycT58A cDNA was generated by in vitro mutagenesis and the mutation confirmed by sequencing before cloning into the pBMN-I-GFP vector as an EcoRI fragment.
All patients had the TTR V30M mutation confirmed by genetic analysis and were referenced to our outpatient ophthalmology clinic from all over the country.
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Yox12A -3xHA was integrated at the endogenous locus via homologous recombination and mutations confirmed by DNA sequencing.
T = True mutants that sequences contain mutations confirmed by Mutation Surveyor®.
Positive clones were identified by blue white colony screening and mutations confirmed by sequencing.
Exome sequencing was performed in seven patients, with SLC52A2 mutations confirmed by Sanger sequencing.
F = False mutants that sequences do not contain mutations confirmed by Mutation Surveyor®.
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