نتایج جستجو برای: mediterranean variant
تعداد نتایج: 135072 فیلتر نتایج به سال:
familialmediterranean fever (fmf) is a hereditary syndrome characterized by recurrent attacks of fever and serositis. liver involvement in fmf has been reported in association with amyloidosis or rarely with vasculitis.in this report, a 32 year-old man with recurrent attacks of fever, abdominal pain and arthralgia is described who had moderate increase in liver transaminases only during disease...
glucose-6-phosphate dehydrogenase (g6pd) in humans is in x-linked disorder, housekeeping enzyme and vital for the survival of every cell. it catalyses the oxidation of glucose-6-phosphate to 6-phospho gluconat in the first committed step of the pentose phosphate pathway, which provides cells with pentoses and reducing power in the form of nadph. nadph is required to protect the cells against ox...
In Portugal, the spectrum of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants is not known. The main objective of this work was to determine the type and frequency of CFTR variants in a sample from northern Portugal by the complete analysis of the CFTR coding sequencing performed in 512 Portuguese children. A total of 30 different CFTR sequence variants, already reported...
This study involves in vitro androgenesis of <sp...
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BACKGROUND More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been identified, most of which cause congenital, severe to profound deafness, whereas a few cause delayed progressive deafness in childhood. We report the study of two Algerian sibli...
BACKGROUND Classic Kaposi sarcoma (cKS) is an inflammatory tumor caused by human herpesvirus 8 (HHV-8) commonly observed in elderly men of Mediterranean origin. We studied a Finnish family of 5 affected individuals in 2 generations. Except for atypical mycobacterial infection of the index case, the affected individuals did not have notable histories of infection. METHODS We performed genome a...
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