نتایج جستجو برای: x gene mutations
تعداد نتایج: 1789763 فیلتر نتایج به سال:
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:</...
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 ...
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 ...
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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