Subclinical ochronosis features in alkaptonuria: a cross-sectional study
نویسندگان
چکیده
منابع مشابه
Determinants of Institutional Delivery in Ethiopia: A cross-sectional study
Background & aim: Government of Ethiopia is promoting institutional delivery despite the fact that there are a high number of home deliveries in the country mainly in hard-to-reach areas. Choice of institutional delivery is vital for the reduction of maternal and neonatal mortalities. The present study aimed to investigate the determinants of institutional delivery in ...
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Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Irani...
متن کاملOcular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
AIMS To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. METHODS A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide pri...
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ژورنال
عنوان ژورنال: BMJ Innovations
سال: 2019
ISSN: 2055-8074,2055-642X
DOI: 10.1136/bmjinnov-2018-000324