نتایج جستجو برای: x gene mutations
تعداد نتایج: 1789763 فیلتر نتایج به سال:
background and aims: lamivudine is amongst the antiviral for drug chronic hepatitis b treatment. during therapy with lamivudine, variants may emerge with ymdd mutation in the reverse transcriptase (rt) region of polymerase gene. this mutation might have a role in drug resistant for hbv. materials and methods: hbv dna extraction from serum sample of 88 patients, were subjected to nested pcr for ...
Background and purpose: Von Willebrand Disease (VWD) type 1, is the most common inherited bleeding disorder caused by defect in Von Willebrand Factor (VWF) gene with 178000 nucleotide length. Different methods are available to detect unknown mutations in a genetic study. The fluorescent conformation sensitive gel electrophoresis (F-CSGE) was designed for the VWF gene by using fluorescent dyes...
X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized bilateral maculopathy and peripheral leading to progressive visual loss during first 2 decades of life complications like retinal detachment vitreous hemorrhage. Herein, we present late ophthalmology findings XLRS patient. Late patient
background: colorectal cancer (crc) is a common and lethal malignancy worldwide. the incident rate of crc is different in various geographica regions. crc is a multifactorial disease; the factors involved included dietary and genetic factors. p53 gene is the most important tumor suppressor gene which involved in many cancers. the mutation rate in exons 7 and 8 of p53 gene in crc was reported to...
Introduction: Despite improvements in the diagnosis and treatment of lung cancer in the past two decades, it has remained the most common cause of death from cancer worldwide. Among all genes that are mutated in lung cancer, TP53 located on chromosome 17P13/1 has a significant diagnostic and prognostic value. TP53 mutations have been extensively studied in lung cancer and TP53 mutational spectr...
Background & objectives: MEFV gene has a major role in Familial Mediterranean Fever (FMF) as an auto-inflammatory disorder. FMF is most often seen in the people of the Mediterranean area. Considering the significant role of the MEFV gene in many rheumatologic diseases and even non-rheumatologic disorders, it is necessary to identify different variations of these mutations in the healthy and nor...
In the current study, we conducted a mutation screening of tumor-associated calcium signal transducer 2 (TACSTD2) gene in six consanguineous Iranian families with gelatinous drop-like corneal dystrophy (GDLD), in order to find the causative mutations. Detailed eye examination was performed by ophthalmologist to confirm GDLD in patients. To detect the possible mutations, direct Sanger sequencing...
Background: Non-dystrophy myotonias (NDMs) have similar clinical signs of muscle weakness and congenital myotoniais typical example. This disease is caused by mutations in CLCN1 gene. CLCN1 gene has 23 exons and exon 8 is hotspot. Mutations in skeletal muscle chloride channel gene are associated with a group of clinically overlapping diseases by alterations in the excitability of the sarcolemma...
introduction: cystic fibrosis (cf) is a common genetic disorder in white populations with an autosomal recessive pattern, caused by mutations in the cftr gene. the frequency of more than 1950 various mutations reported in the cftr gene significantly varies in different populations. ∆f508 is a common mutation in exon 10, which is first addressed in the molecular analysis of the disease. other ex...
background: mutations in the gjb2 gene encoding connexin 26 protein, are the main cause for autosomal recessive and sporadic non syndromic hearing loss in many populations. here, we have taken together and reviewed results from our six previous publications, our unpublished data from ten iranian provinces, as well as data from two previous mutation reports to provide a comprehensive collection ...
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