نتایج جستجو برای: mutation detection method

تعداد نتایج: 2333870  

Journal: : 2021

Detection of Lack Function Mutation p.Q879X Affecting Abortion in APAF1 Gene Holstein Cattle

2004
H Y Guo

The global optimization of sensor locations for structural health monitoring systems is studied in this paper. First, the performance function based on damage detection is presented. Then, genetic algorithms (GAs) are adopted to search for the optimal locations of sensors. However, the simple GAs can result in infeasible solutions to the problem. Some improved strategies are presented in this p...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه صنعتی خواجه نصیرالدین طوسی - دانشکده مهندسی برق و کامپیوتر 1391

power transformers are important equipments in power systems. thus there is a large number of researches devoted of power transformers. however, there is still a demand for future investigations, especially in the field of diagnosis of transformer failures. in order to fulfill the demand, the first part reports a study case in which four main types of failures on the active part are investigate...

2011
Anna H Zhao Rufei Gao Zhizhuang J Zhao

BACKGROUND Ph- myeloproliferative neoplasms (MPNs) represent a heterogeneous group of chronic diseases characterized by increased expansion of hematopoietic cells of the myeloid lineage. JAK2V617F, an activation mutation form of tyrosine kinase JAK2, is found in the majority of patients with MPNs. Studies have demonstrated that JAK2V617F can cause MPNs, and various methods have been developed t...

Journal: :Prenatal diagnosis 1998
B Cormand M Montfort A Chabás D Grinberg L L Vilageliu

Mutations in the gene encoding beta-glucocerebrosidase are the main cause of Gaucher disease. The identification of some of these mutations in prenatal tests is a good complement to enzymatic assay and allows diagnosis and, in some cases, prognosis of the disease to be made. DNA analysis is particularly useful for carrier detection since the results of biochemical analyses are often ambiguous. ...

ژورنال: پیاورد سلامت 2009
بهار, بابک, توگه, غلام رضا, درگاهی, حسین, علی مقدم, کامران, غفاری, حمیداله, قوام زاده, اردشیر, نادعلی, فاطمه, چهاردولی, بهرام, کریم زاده, پریسا,

Background and Aim: The JAK2 is an acquired mutation that is observed in majority of patients with classical Philadelphia-negative Myeloproliferative neoplasms that include polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). This acquired mutation is characterized by a G to T transversion at nucleotide 1849 in exon 12 of the JAK2 gene, leading to a substitution ...

2017
Cheng Zhang Yiping Chen Xinmiao Liang Guanhua Zhang Hong Ma Leng Nie Yu Wang

Quantum dots (QDs) are semiconductor nanoparticles with a diameter of less than 10 nm, which have been widely used as fluorescent probes in biochemical analysis and vivo imaging because of their excellent optical properties. Sensitive and convenient detection of hepatitis B virus (HBV) gene mutations is important in clinical diagnosis. Therefore, we developed a sensitive, low-cost and convenien...

Alireza Kordafshari, Atefeh Valaei, Morteza Karimipoor, Sirous Zeinali,

Alpha-thalassemia (α-thal) is probably the most prevalent monogenic condition in the world. Deletions are the most common types of mutations in α-thal, followed by point mutations and small insertion/deletion. In the context of national screening program for prevention of thalassemia and hemoglobinopathies in Iran, α-thal carriers have come to more attention. Therefore, the fr...

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