نتایج جستجو برای: genetic mutation
تعداد نتایج: 825720 فیلتر نتایج به سال:
Staphylococcus aureus carrying PVL gene remain major health problem associated with highly virulent infections. Characterization of such gene is important to know the impact and the functional significance of nucleotide variations. PCR and standard sequencing were performed for twelve Sudanese strains from different sources. Protein structures prediction, modeling and physiochemical analysis we...
introduction: the myeloproliferative neoplasms (mpns) are a heterogeneous group of diseases characterized by excessive production of blood cells by hematopoietic precursors. typically, they include polycythemia vera (pv), essential thrombocythemia (et), idiopathic myelofibrosis(imf), and chronic myeloid leukemia (cml). philadelphia chromosome is the final diagnostic test for cml. recently, jak...
background: oculocutaneous albinism type1 (oca1) is characterized by the absence of melanin pigmentation. the mutation on tyr gene makes oca1 as an autosomal recessive genetic disorder. in this study, we delineated the genetic analysis of an iranian family with four members affected with oca1. methods: clinical exams and paraclinical test were performed for all patients of the case family, al...
In the GA approach the parameters that influence its performance include population size, crossover rate and mutation rate. Genetic algorithms are suitable for traversing large search spaces since they can do this relatively fast and because the mutation operator diverts the method away from local optima, which will tend to become more common as the search space increases in size. GA’s are base...
در تحلیل پایداری شیروانیهای خاکی، یافتن سطح لغزشی که دارای کمترین ضریب اطمینان باشد (سطح لغزش بحرانی)، سابقه ای طولانی دارد. کلیه روشهای که تا به حال برای تعیین سطح لغزش بحرانی غیره دایره ای ارائه شده اند به سه دسته کل تقسیم بندی می شوند، الف) روش عددی حساب تغییرات ب) روشهای توده خاکی ج) روشهای بهینه سازی کلاسیک از سه روش فوق، روشهای بهینه سازی کلاسیک بیشتری کاربرد را در تعیین سطح لغزش بحرانی غ...
We present the case of an infant admitted to our department for a rapid broad complex tachycardia and cardiovascular collapse. The patient was submitted genetic testing because conduction defect at baseline ECG family history gene mutation. A new SCN5A mutation variant found leading diagnosis sodium-channel dysfunction arrhythmia.
lots of viruses, in particular rna viruses, have high mutation rates and relatively short generation times. particle stability during infection in nature or in laboratory triggers the evolutionary event toward different mechanisms such as genome segmentation, point mutation and recombination. the frequency of mutant genomes increase and modify the previous distribution, which, consequently, l...
Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...
diseases of the motor unit are common in children. these diseases are mostly genetically determined. cmt represents a clinically heterogeneous group of disorders caused by aberration of the intimate relationship between the schwann cell sheath and the neural axon, ultimately resulting in axonal death and muscular dennervation. a simple clinical classification of cmt (demyelinating versus axonal...
background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic disorders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagnosis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...
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