نتایج جستجو برای: tkd835 mutation
تعداد نتایج: 291413 فیلتر نتایج به سال:
Background: JAK2 is a nonreceptor tyrosine kinase that plays a major role in myeloid disorders. This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the JAK2 gene, located on the chromosome 9p, leading to a substitution of valine to phenylalanine at amino acid position 617 in the JAK2 protein. In this study we compared the amplification refractory mutation (ARM...
Background: Behcet’s disease (BD) is a multisystemic inflammatory disease with unknown origin characterized by recurrent oral aphtous ulcers, genital, ocular and skin lesions. A single point mutation 1691G to A in the factor V gene increases the risk of venous thrombosis. This study designed to determine factor V Leiden mutation in Behcet’s disease, and to find out it's relationship with the cl...
Objective Mustard gas (MG) is a poisoning chemical, mutagenic and carcinogenic alkylating agent. It is used during World War I and also Iran-Iraq conflict. The p53 tumor suppressor gene is involved in the pathogenesis of malignant disease. The aim of this study is to determine possible mutation in p53 gene of lung sample from mustard gas exposed patients. Material and Methods Twelve lung bio...
Background and purpose: 5-Flourouracil (5-FU) is one of the most common chemical drugs used in chemotherapy of patients with cancers. Dihydropyrimidine dehydrogenase (DPD) is a critical enzyme in the catabolism of 5-FU. More than 80% of the administered 5-FU is catabolized by DPD. c.1905+1G>A mutation on DPD gene is the most important mutation associated with DPD enzymatic deficiency which lead...
Background & Aims: Recent studies have shown that some of the MEFV gene mutations are common in patients with coronary artery disease. The present study was designed to investigate the presence or absence of E148Q mutation in exon 2 of MEFV gene in patients with premature coronary artery disease. Materials & Methods: In this study, 90 patients with coronary artery disease were voluntarily sele...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of Iran. Therefore in the present...
Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...
results using these two sets, we identified h1069q mutation in four patients, c.2335t > g mutation in three, c.3061-1g > a splice site mutation in five, c.3305t > c mutation in one, and c.3809a > g mutation in two patients. conclusions the multiplex arms assay used in this study can be an efficient, reliable, and cost effective method as a primary screen for patients with wilson disease. patien...
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an enzymopathy affecting about 400 millionpeople worldwide. The distribution of G6PD deficiency and the molecular genetics of this enzyme vary widelyamong different ethnic groups. The aim of this study was to find out the frequency of G6PD deficiency andcharacterize the Mediterranean type mutation in deficient individuals ...
how to cite this article: shalbafan b. a family case report of niemman pick c with new mutation and different presentations. iran j child neurol. 2015 autumn;9:4(suppl.1): 20-21. pls see pdf.
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