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Keywords: Precision medicine
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Journal Articles

Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D6*3 Genotyping Assays

Open Access
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Giada Scantamburlo, Konstantina Tziolia, Michaela Zopf, Emanuele Bernardinelli, Selma M. Soyal, Davide Antonio Civello, Simone Vanoni, Silvia Dossena, Wolfgang Patsch, George P. Patrinos, Markus Paulmichl, Charity Nofziger
Journal: Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2017) 43 (6): 2297–2309.
https://doi.org/10.1159/000484380
Published Online: 27 October 2017
.... Pharmacogenomics Pharmacogenetics Precision medicine Pyrosequencing Most techniques used to detect genetic variations require polymerase chain reaction (PCR), with which comes the risk of allele drop out events. When allele drop out occurs, the genetic variation of interest on one of the alleles...
View articletitled, Allele Drop Out Conferred by a Frequent CYP2D6 Genetic Variation For Commonly Used CYP2D6*3 Genotyping Assays
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Journal Articles

Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis

Open Access
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Miquéias Lopes-Pacheco, Clément Boinot, Inna Sabirzhanova, Daniele Rapino, Liudmila Cebotaru
Journal: Cellular Physiology and Biochemistry
Cellular Physiology and Biochemistry (2017) 41 (6): 2194–2210.
https://doi.org/10.1159/000475578
Published Online: 25 April 2017
... recent advances in precision medicines for CF patients, many CFTR mutants have not been characterized and the effects of these new therapeutic approaches are still unclear for those mutants. Methods: Cells transfected or stably expressing four CFTR transmembrane-domain mutants (G85E, E92K, L1077P...
View articletitled, Combination of Correctors Rescues CFTR Transmembrane-Domain Mutants by Mitigating their Interactions with Proteostasis
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