کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2578069 | 1129975 | 2015 | 10 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Fibrosis quÃstica: detección bioquÃmica y diagnóstico molecular
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیوشیمی بالینی
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چکیده انگلیسی
Cystic fibrosis is the most severe common autosomal recessive disease in caucasian population. Its prevalence in countries of Western Europe is one case in 2.000-6.000 live births. Patients develop a chronic, progressive lung disease, which is the most common cause of morbidity and mortality. In 85% of cases there is also pancreatic insufficiency. Hepatobiliary and genitourinary disorders and azoospermia are frequent, although lung symptoms and pancreatic insufficiency determine the severity of the disease. It is a genetic disease caused by defects in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator). To date more than 1900 mutations have been reported. Diagnosis of the disease is essentially clinical and confirmation is made by the detection of high levels of sweat chloride and the identification of mutations in the CFTR gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revista del Laboratorio ClÃnico - Volume 8, Issue 2, AprilâJune 2015, Pages 82-91
Journal: Revista del Laboratorio ClÃnico - Volume 8, Issue 2, AprilâJune 2015, Pages 82-91
نویسندگان
Tegra Barreiro MartÃnez, José Luis MarÃn Soria,