DIRECT SEQUENCING OF CSTs IN CYSTIC FIBROSIS PATIENTS BEARING UNDEFINITE GENOTYPE
نویسندگان
چکیده
منابع مشابه
Maintaining 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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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...
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Introduction: Bronchiectasis is a common problem in children especially under 5 years. Early diagnosis of disease and its causes could be useful in early treatment and preventing probable complications. This study aimed at evaluating the cystic fibrosis (CF) in patients with bronchiectasis. Methods: In a cross-sectional study, 374 children with bronchiectasis were studied. The diagnosis was ma...
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...
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ژورنال
عنوان ژورنال: Journal of Cystic Fibrosis
سال: 2008
ISSN: 1569-1993
DOI: 10.1016/s1569-1993(08)60515-9