نتایج جستجو برای: ethe1 gene mutation
تعداد نتایج: 1284730 فیلتر نتایج به سال:
Background & Objective: Mutations in embB306 gene and their association with resistance to ethambutol (EMB) in Mycobacterium tuberculosis (M. tuberculosis) have not been fully investigated. The aim of this study was to investigate the point-mutations in emb306B gene and their association with resistance to EMB in M. tuberculosis. Materials & Methods: This case (M. tuberculosis resistant to EMB...
background: systemic-onset juvenile idiopathic arthritis (sojia) is an autoinflammatory disease with complex genetic trait starts in children less than 16 years of age with fever and cutaneous rash. despite, the main genetic factors that may play a role in sojia have not yet been identified. high level of interleukin-1beta in the blood of sojia patients has been reported. the production and sec...
Objectives and Background: Mutation directed inactivation of the tumor suppressor gene p53 have been found incountries with high frequency for hepatocellular carcinomas (HCCs). Our goal in the present study was screening of the p53 gene in tumor tissues from HCC affected individuals in southwest Iran for putative mutations in exons 7 and 8 that are known as hot spot regions. Materials & Met...
Introduction: Mucopolysaccharidosis I (MPS-I) is an autosomal recessive lysosomal storage diseases, caused by α-L-iduronidase (IDUA) enzyme deficiency. The clinical manifestations of MPS-I patients are variable ranging from severe to mild, and therefore prediction of disease severity is difficult. From when IDUA gene has been cloned more than 109 distinct mutations have been identified in it an...
Background: Factor V Leiden, Prothrombin gene (G20210A) and MTHFR (C677T) polymorphism are the main biomarkers for evaluation of tendency for venous thromboembolism. We aimed to investigate the frequency of mutations in factor V Leiden, Prothrombin G20210A and MTHFR C677T and identify the genetic status for these mutations in patients with venous thrombosis. Methods: This study was carried out...
SCIAMACHY (Scanning Imaging Absorption spectroMeter for Atmospheric CHartographY) is a space based spectrometer designed to measure sunlight transmitted, reflected and scattered by the Earth atmosphere or surface. It is a contribution to the Envisat-1 satellite to be launched in late 1999. SCIAMACHY measurements will provide amounts and distribution of Os, BrO, OClO, ClO, SOz, H&O, NOa, CO, COs...
abstract: chronic lymphocyte leukemia (cll) is the most common leukemia in elderly individuals that is accompanied by the presence of cd5/cd19/cd20/cd23 positive, fmc7 negative and reduced levels of surface membrane immunoglobuline (igm & igd), cd79b on b lymphocytes in the blood, bone marrow and lymph nodes. remarkably, based on the mutational igvh status, b-cll cases can be subdivided into tw...
background: pantothenate kinase associated neurodegeneration (pkan) is the most prevalent type of neurodegeneration with brain iron accumulation (nbia) disorders characterized by extrapyramidal signs, and 'eye-of-the-tiger' on t2 brain magnetic resonance imaging (mri) characterized by hypointensity in globus pallidus and a hyperintensity in its core. all pkan patients have homozygous or compoun...
background and aims: lamivudine is amongst the antiviral for drug chronic hepatitis b treatment. during therapy with lamivudine, variants may emerge with ymdd mutation in the reverse transcriptase (rt) region of polymerase gene. this mutation might have a role in drug resistant for hbv. materials and methods: hbv dna extraction from serum sample of 88 patients, were subjected to nested pcr for ...
Beta thalassemia is the most common autosomal recessive disorder. The present study reports a rare β globin gene mutation, HBB: c.180G>A: codon 59 (AAG/AAA), in a patient from Gilan province, northern Iran. Nucleotide sequencing of amplified DNA belonging to a 35 years old man presenting mild hypochromia revealed a synonymous mutation due to a G>A conversion at the third position of codon 59 o...
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