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Absolute quantification of the alleles in somatic point mutations by bioluminometric methods based on competitive polymerase chain reaction in the presence of a locked nucleic acid blocker or an allele-specific primer.
Iliadi A, Petropoulou M, Ioannou PC, Christopoulos TK, Anagnostopoulos NI, Kanavakis E, Traeger-Synodinos J. Iliadi A, et al. Among authors: kanavakis e. Anal Chem. 2011 Sep 1;83(17):6545-51. doi: 10.1021/ac200810h. Epub 2011 Aug 9. Anal Chem. 2011. PMID: 21797212
Hb Souli, a 6 bp in-frame deletion on the HBA2 gene (HBA2: c.[41-46delCCTGGG]) leads to α-thalassemia intermedia, when in trans to a single α-globin gene deletion.
Kattamis A, Delaporta P, Fylaktou I, Vrettou C, Kyriakopoulou D, Stamoulakatou A, Papassotiriou I, Kanavakis E, Traeger-Synodinos J. Kattamis A, et al. Among authors: kanavakis e. Hemoglobin. 2015;39(1):55-7. doi: 10.3109/03630269.2014.981827. Epub 2014 Dec 5. Hemoglobin. 2015. PMID: 25476779
276 results