Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients
| Title: | Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients |
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| Authors: | Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elenai I Kondratyeva, Andrey V Marakhonov, Milan Macek Jr, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko |
| Source: | Journal of Medical Science, Vol 89, Iss 1 (2020) |
| Publisher Information: | Poznan University of Medical Sciences, 2020. |
| Publication Year: | 2020 |
| Collection: | LCC:Medicine |
| Subject Terms: | cystic fibrosis, L138ins (c.411_412insCTA, p.Leu138dup) mutation, haplotype, Medicine |
| More Details: | The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the CFTR 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. |
| Document Type: | article |
| File Description: | electronic resource |
| Language: | English |
| ISSN: | 2353-9798 2353-9801 |
| Relation: | https://jms.ump.edu.pl/index.php/JMS/article/view/383; https://doaj.org/toc/2353-9798; https://doaj.org/toc/2353-9801 |
| DOI: | 10.20883/medical.383 |
| Access URL: | https://doaj.org/article/a523de0ff25c4f85aab3329b90684460 |
| Accession Number: | edsdoj.523de0ff25c4f85aab3329b90684460 |
| Database: | Directory of Open Access Journals |
| ISSN: | 23539798 23539801 |
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| DOI: | 10.20883/medical.383 |
| Published in: | Journal of Medical Science |
| Language: | English |