Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients

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 13...

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Bibliographic Details
Main 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
Format: Article
Language:English
Published: Poznan University of Medical Sciences 2020-03-01
Series:Journal of Medical Science
Subjects:
cystic fibrosis
L138ins (c.411_412insCTA, p.Leu138dup) mutation
haplotype
Online Access:https://jms.ump.edu.pl/index.php/JMS/article/view/383

Internet

https://jms.ump.edu.pl/index.php/JMS/article/view/383

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