15 Genotype-phenotype correlation in cystic fibrosis patients in Slovakia – novel mutations
نویسندگان
چکیده
منابع مشابه
Cystic fibrosis from genotype to phenotype: review article
Cystic fibrosis (CF) is the most common autosomal recessive genetic disease, which is caused by defection in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR gene codes chloride channels to modulate the homeostasis of epithelial environments. Defective CFTR affects various organs such as the lungs, pancreas, intestine, liver and skin; however, lung impairment is the mai...
متن کاملGenotype-phenotype correlation for pulmonary function in cystic fibrosis.
BACKGROUND Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). METHODS A prospective cohort of adult patients wi...
متن کاملCYSTIC FIBROSIS Genotype-phenotype correlation for pulmonary function in cystic fibrosis
Background: Since the CFTR gene was cloned, more than 1000 mutations have been identified. To date, a clear relationship has not been established between genotype and the progression of lung damage. A study was undertaken of the relationship between genotype, progression of lung disease, and survival in adult patients with cystic fibrosis (CF). Methods: A prospective cohort of adult patients wi...
متن کاملGenotype-phenotype relationship in Iranian patients with cystic fibrosis.
BACKGROUND/AIMS Cystic fibrosis (CF), the most common hereditary, life-threatening disease, is caused by a mutation in the CFTR gene. Because different mutations can affect clinical manifestations of patients, this study was conducted to investigate the possible genotype-phenotype relationship in a group of Iranian patients with CF. MATERIALS AND METHODS This case-series study was conducted i...
متن کاملGenotype/phenotype correlation of the G85E mutation in a large cohort of cystic fibrosis patients.
In this European study, the phenotype in 68 patients, homozygous or compound heterozygous for the G85E mutation, was investigated. Each index case was compared with two cystic fibrosis (CF) patients from the same clinic, matched for age and sex: one with pancreatic sufficiency (PS) and one with pancreatic insufficiency (PI). When comparing 31 G85E/F508del and F508del/F508del patients, there wer...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2011
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(11)60037-4