Source: Virtual Congress 2020 – Cystic fibrosis



Rating:

Share or cite this content

Citations should be made in the following way:
Y. Gorinova (Moscow, Russian Federation), K. Savostyanov (Moscow, Russian Federation), O. Simonova (Moscow, Russian Federation), S. Krasovskyi (Moscow, Russian Federation). Description of new CFTR gene’s mutations in patients of Russia. 2763

Member's Comments

No comment yet.

Related content which might interest you: First identified “severe” mutations and extended rearrangements in the CFTR gene in Russian cystic fibrosis patients Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020 The analysis of rare CFTR mutations identified by resequencing method in patients with cystic fibrosis from northeastern Poland Source: Annual Congress 2007 - Novel genetic markers in pathology Year: 2007 Genotypic diversity of Pseudomonas aeruginosa in cystic fibrosis patients with the CFTR I1234V mutation in a large kindred family Source: Annual Congress 2012 - Cystic fibrosis (adults and children): risk factors and clinical problems Year: 2012 CFTR gene mutations detected in Japanese individuals with cystic fibrosis Source: Eur Respir J 2006; 28: Suppl. 50, 716s Year: 2006 Distinctive CFTR gene mutations found in Japanese individuals with cystic fibrosis Source: Annual Congress 2004 - Cystic fibrosis in the 21st century: cutting edge investigations, taxing problems Year: 2004 Evaluation of MRP1-5 gene expression in cystic fibrosis patients homozygous for the ΔF508 mutation Source: Annual Congress 2003 - Cystic fibrosis: new genes, new controversies Year: 2003 Analysis of CFTR gene mutations in 24 Japanese individuals with cystic fibrosis Source: Annual Congress 2010 - Cystic fibrosis: lung disease infection and more Year: 2010 Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene Source: International Congress 2018 – Latest developments in cystic fibrosis Year: 2018 CFTR mutations unidentified in CFTR2 database and their phenotypic characteristics: Data from cystic fibrosis registry of Turkey Source: Virtual Congress 2020 – Cystic fibrosis Year: 2020 Phenotype and outcome of PAH patients carrying a TBX4 mutation Source: Virtual Congress 2020 – Genetics and genomics of pulmonary arterial hypertension Year: 2020 The allelic frequency for S and Z mutations in the SERPINA1 gene in NSCLC patients from Poland Source: International Congress 2017 – Gene signatures in bronchial diseases Year: 2017 A novel CFTR mutation found in a Chinese cystic fibrosis patient Source: Eur Respir J 2005; 26: Suppl. 49, 402s Year: 2005 Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations. Source: Virtual Congress 2021 – Genetics and translational aspects of idiopathic pulmonary fibrosis Year: 2021 Telomere-Related Gene mutations in a Greek cohort of suspected monogenic pulmonary fibrosis patients Source: Virtual Congress 2020 – Idiopathic pulmonary fibrosis and interstitial lung disease: progression, genes and more Year: 2020 Specific features of spectrum and frequency of CFTR mutations in ethnically different populations of the Russian Federation Source: International Congress 2018 – Russian Speaking Programme 2018: Part I Year: 2018 Rescue of CFTR function impaired by mutations in exon 15 Source: Virtual Congress 2020 – Clinical monitoring and new therapies for cystic fibrosis Year: 2020 Identification and characterisation of seven novel SERPINA1 null mutations Source: International Congress 2014 – Genes and environment in asthma and COPD Year: 2014 Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 270-271 Year: 2014 Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required? Source: Eur Respir J 2014; 44: 269-270 Year: 2014 Carriers of a single CFTR mutation are asymptomatic: an evolving dogma? Source: Eur Respir J, 56 (3) 2002645; 10.1183/13993003.02645-2020 Year: 2020