P001 Phenotypic features of cystic fibrosis gene mutations in patients from the Russian Federation
نویسندگان
چکیده
منابع مشابه
Prevalence of Cystic Fibrosis Trans-membrane Conductance Regulator Gene common mutations in children with cystic fibrosis in Isfahan, Iran
Background: Cystic fibrosis (CF) is the most common lethal genetic disorder of Cystic Fibrosis Trans-membrane Conductance (CFTR) Regulator gene mutations. We aimed to investigate common mutations in CF patients and to assess its possible relationship with clinical presentations. Materials and Methods: This cross sectional study was conducted on 36 CF patients who were referred to a tertiary ped...
متن کاملAnalysis of CFTR Gene Mutations in Children with Cystic Fibrosis, First Report from North-East of Iran
Objective(s): More than 1500 registered mutations in cystic fibrosis transmembrane regulator (CFTR) gene are responsible for dysfunction of an ion channel protein and a wide spectrum of clinical manifestations in patients with cystic fibrosis (CF). This study was performed to investigate the frequency of a number of well-known CFTR mutations in North Eastern Iranian CF patients. Material and...
متن کاملAntibiotic Susceptibility of Pseudomonas Aeruginosa Isolated from Cystic Fibrosis Patients
Abstract Background and Objective: Cystic fibrosis (CF) is an autosomal recessive genetic disease and Pseudomonas aeruginosa is one of the most common bacteria colonized in CF patients. Growing resistance of this bacterium to antibiotics now a day is a challenge of controlling infection in CF patient. In this study colonization of CF patients with Pseudomonas aeruginosa and antibiotic suscep...
متن کاملthe molecular analysis of mutations in exons 4, 11 and 21 of the cystic fibrosis transmembrane conductance regulator (cftr) gene in cystic fibrosis patients in kermanshah, iran
introduction: cystic fibrosis (cf) is a common genetic disorder in white populations with an autosomal recessive pattern, caused by mutations in the cftr gene. the frequency of more than 1950 various mutations reported in the cftr gene significantly varies in different populations. ∆f508 is a common mutation in exon 10, which is first addressed in the molecular analysis of the disease. other ex...
متن کاملMaintaining Respiratory Health in Cystic Fibrosis Patients
Cystic fibrosis (CF) is an inherited disease that primarily affects the lungs and the digestive system, however, it also affects a number of other organs and systems. More than 90% of mortality of CF patients is due to lung complications. Healthy lungs are important for a long life for people with CF, We will discuss two important topics for maintaining respiratory health. Chronic use of drug...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2019
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(19)30296-6