@article{Petrova_Kashirskaya_Vasilyeva_Kondratyeva_Marakhonov_Macek Jr_Ginter_Kutsev_Zinchenko_2020, title={Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients}, volume={89}, url={https://jms.ump.edu.pl/index.php/JMS/article/view/383}, DOI={10.20883/medical.383}, abstractNote={<p>The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the <em>CFTR</em> gene and is categorised as a small in-frame insertion/deletion. As a result, the CFTR protein molecule elongates by one amino acid residue, leucine, at position 138 (codon 138 (CTA)). In accordance with the new nomenclature, it should be called c.411_412insCTA (p.Leu138dup). The c.411_412insCTA (p.Leu138dup, L138ins) mutation is found in CF patients of Slavic origin (Russians, Ukrainians) and has been linked to a single haplotype of the intragenic DNA markers IVS1CA-IVS6aGATT-IVS8CA-IVS17bCA - 22-7-16-13.</p>}, number={1}, journal={Journal of Medical Science}, author={Petrova, Nika V and Kashirskaya, Nataliya Y and Vasilyeva, Tatyana A and Kondratyeva, Elenai I and Marakhonov, Andrey V and Macek Jr, Milan and Ginter, Evgeny K and Kutsev, Sergey I and Zinchenko, Rena A}, year={2020}, month={Mar.}, pages={e383} }