Cystic Fibrosis: Clinical profile of 10 patients with R334W mutation compared to ?F508 homozigoty

S. Moura Cabral (Coimbra, Portugal), J. Oliveira Pereira (Coimbra, Portugal), B. Gonçalves (Coimbra, Portugal), F. Gamboa (Coimbra, Portugal)

Source: Virtual Congress 2020 – Cystic fibrosis
Session: Cystic fibrosis
Session type: E-poster session
Number: 2766
Disease area: Respiratory infections

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
S. Moura Cabral (Coimbra, Portugal), J. Oliveira Pereira (Coimbra, Portugal), B. Gonçalves (Coimbra, Portugal), F. Gamboa (Coimbra, Portugal). Cystic Fibrosis: Clinical profile of 10 patients with R334W mutation compared to ?F508 homozigoty. 2766

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Phenotypic characteristics in adult cystic fibrosis (CF) patients carrying 3849+10kbC>T mutation in Russia
Source: International Congress 2015 – Cystic fibrosis: microbiology, immunology and assessment
Year: 2015

Single nucleotide polymorphims 1540G/A, 2694T/G and 4521G/A of CFTR gene and their association with cystic fibrosis phenotype
Source: International Congress 2014 – Cystic fibrosis: genotypes, inflammation and microbiology
Year: 2014

p.Leu206Trp mutation: Genotype-phenotype correlation in 23 paediatric / adults cystic fibrosis (CF) patients
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems, genetics and microbiology in children
Year: 2013


Risk of asthma in heterozygous carriers for cystic fibrosis: A meta-analysis
Source: International Congress 2016 – Cystic fibrosis: various aspects
Year: 2016


Effects of Lumacaftor-Ivacaftor Therapy on CFTR Function in Phe508del Homozygous Patients with Cystic Fibrosis
Source: International Congress 2018 – Latest developments in cystic fibrosis
Year: 2018




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


The impact of genotype on clinical course of cystic fibrosis (CF) in adult patients
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems and microbiology in adults
Year: 2013


Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C
Source: Eur Respir J 2001; 17: 1195-1200
Year: 2001



The role of CFTR/ENaC genotype in cystic fibrosis-like phenotypes
Source: International Congress 2014 – Cystic fibrosis: basic science, physiology and clinical aspects
Year: 2014

Genotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients
Source: Eur Respir J 2004; 23: 679-684
Year: 2004



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


Clinical value of lung clearance index (LCI) among patients with cystic fibrosis
Source: International Congress 2014 – Cystic fibrosis: clinical assessment and treatment
Year: 2014


Genetic characterization of cystic fibrosis patients in Portugal
Source: Annual Congress 2013 –Cystic fibrosis: clinical problems, genetics and microbiology in children
Year: 2013


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


Clinical development of triple-combination CFTR modulators for cystic fibrosis patients with one or two F508del alleles
Source: ERJ Open Res, 5 (2) 00082-2019; 10.1183/23120541.00082-2019
Year: 2019



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


Forecasting US ivacaftor outcomes and cost in cystic fibrosis patients with the G551D mutation
Source: Eur Respir J 2016; 47:1697-1705
Year: 2016



Connexin 37 and connexin 43 genotypes in correlation to cytokines in induced sputum and blood in cystic fibrosis (CF)
Source: International Congress 2014 – Cystic fibrosis: genotypes, inflammation and microbiology
Year: 2014

Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population
Source: Eur Respir J, 56 (3) 2000558; 10.1183/13993003.00558-2020
Year: 2020