نتایج جستجو برای: x gene mutations

تعداد نتایج: 1789763  

Background and Objective: Identification of cytogenetic and molecular changes plays an important role in acute myeloid leukemia (AML) patients. Thus, they are used in classification, prognosis and treatment of the disease. The CD123 expression and FLT3 gene mutations are also the variations that may assist in prognosis and treatment of patients with AML.Methods:</...

Fatemeh Sarkargar, Hossein Khodai , Mahta Mazaheri , Razieh Sadat Tabatabaei,

Abstract Background: Haemophilia A (HA) is an X-linked bleeding disorder caused by the absence or reduced activity of coagulation factor VIII (FVIII). Coagulation factors are a group of related proteins that are essential for the formation of blood clots. The aim of this study was to genotype the coagulation factor VIII gene mutations using Inverse Shifting PCR (IS-PCR) in an Iranian family ...

Journal: :journal of research in medical sciences 0
rokhsareh meamar isfahan neurosciences research center, isfahan university of medical sciences and department of medical sciences, najaf abad branch, isfahan, iran maryam ostadsharif department of basic medical sciences, khorasgan branch, islamic azad university, isfahan, iran mohammad saadatnia isfahan neurosciences research center and department of neurology, medical school, isfahan university of medical sciences, isfahan, iran abbas ghorbani isfahan neurosciences research center and department of neurology, medical school, isfahan university of medical sciences, isfahan, iran nayereh nouri molecular genetics laboratory, alzahra hospital, isfahan university of medical sciences, isfahan, iran leila dehghani department of medical sciences, najaf abad branch, isfahan, iran

normal 0 false false false en-us x-none ar-sa background: there are contrary results about the role of cacna1a gene in the causation of common migraine in different populations. however, migraine may be genetically heterogeneous and more studies in different families and populations are required for a definite conclusion. the aim of this study was to surveyed leukocyte genomic dna mutation of c...

Objective(s): Regarding the global burden of uropathogenic Escherichia coli (UPEC) infections, prevention and treatment of such infections play a significant role in healthcare management. The inordinate use of fluoroquinolones led to a worldwide spread of quinolone-resistant strains. Therefore, this study aimed to investigate mutations in codons 83 and 106 of gyrA gene in UPEC isolates in the ...

Journal: :American Journal of Medical Genetics Part A 2017

Journal: :hepatitis monthly 0
hassan dastsooz department of medical genetics, shiraz university of medical sciences, shiraz, ir iran; department of molecular medicine, shiraz university of medical sciences, shiraz, ir iran mohammad hadi imanieh shiraz transplant research center, gastroenterohepatology research center, namazi teaching hospital, shiraz university of medical sciences, shiraz, ir iran seyed mohsen dehghani shiraz transplant research center, gastroenterohepatology research center, namazi teaching hospital, shiraz university of medical sciences, shiraz, ir iran mahmood haghighat shiraz transplant research center, gastroenterohepatology research center, namazi teaching hospital, shiraz university of medical sciences, shiraz, ir iran maryam moini department of internal medicine, gastroenterology and hepatology research center, shiraz university of medical sciences, shiraz, ir iran majid fardaei department of medical genetics, shiraz university of medical sciences, shiraz, ir iran; department of molecular medicine, shiraz university of medical sciences, shiraz, ir iran; stem cell and transgenic technology research center, shiraz university of medical sciences, shiraz, ir iran; department of medical genetics, shiraz university of medical sciences, 7134853185, shiraz, ir iran. tel: +98-7112349610, fax: +98-7112349610

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...

Gaucher's disease (GD) is the most frequent lysosomal storage disorder resulting from a deficiency of the enzyme glucocerebrosidase (GBA) which causes the accumulation of glucocerebroside. More than 500 mutations have been reported on the GBA gene so far. In this study, we aimed to investigate more on the genotype of less known mutations through haplotype analysis to explain their disease-causi...

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