نتایج جستجو برای: igvh mutation
تعداد نتایج: 291497 فیلتر نتایج به سال:
Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier i...
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...
The immunoglobulin heavy and light chain genes which encode the antigen binding site of the B cell receptor (BCR) in CLL may be either mutated or unmutated raising the question as to whether CLL originates from a single, or more than one target cell. Microarray studies performed to address this issue have been inconclusive but do show a common ‘‘CLL signature’’ quite similar to that of both nor...
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...
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