نتایج جستجو برای: ymdd mutation

تعداد نتایج: 291493  

آبسواران, ابوالفضل, اسماعیلی, محسن, جبارپور بنیادی, مرتضی, لطفلیزاده, نادر, یونس پور, رضا,

Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...

Journal: :iranian journal of public health 0
samaneh hajihoseini genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. majid motovali-bashi genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. mohammad amin honardoost molecular and cellular division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran. nader alerasool genetics division, dept. of biology, faculty of sciences, university of isfahan, isfahan, iran.

β-thalassemia, a monogenic autosomal recessive disorder, is prevalent in middle east, particularly in iran. in iran, near to 20 mutations in the β-globin gene are introduced as common mutations with varying incidence frequencies in each city. therefore, detection and screening for couples at high risk can help to solve the problems of this disease. in this study, optimized genotyping of two com...

Journal: :Journal of clinical microbiology 2005
B Zöllner M Sterneck K Wursthorn J Petersen M Schröter R Laufs H-H Feucht

The reverse transcriptase V207I mutation within the hepatitis B virus (HBV) polymerase is associated with resistance to lamivudine in vitro. The prevalence of this mutation in treatment-naive patients was 1% (1/96). A follow-up of the patient carrying this mutation prior to treatment revealed no loss of sensitivity of HBV to lamivudine in vivo.

ژورنال: پیاورد سلامت 2008
توگه, غلام رضا, علی مقدم, کامران, عین اللهی, ناهید, غفاری, سید حمیداله, فردوسی, شیرین, قوام زاده, اردشیر, موسوی, سید اسد اله, نادعلی, فاطمه, چاردولی, بهرام,

Background and Aim : Myeloproliferative neoplasms are clonal and heterogeneous disorders of hematopoietic stem cells lead to increase of one or more cell lines in the blood. Recently, the acquired mutation JAK2 V617F has been described in the majority of patients with myeloproliferative neoplasms (MPNs).This mutation is characterized by a G to T transverse at nucleotide 1849 in exon 12 of the J...

راستان, حمیده, ربیعی‌پور, ساغر, صفری, نازیلا, جهانگیرپور, محمدعلی , خسروی‌پور, گلاره, شیخ‌سفلی, فاطمه, مدنی اصفهانی, طاهره , پوپک, بهزاد,

Abstract Background & Aims:BRAF-V600E mutation has recently been considered as a molecular marker in diagnosis of Hairy Cell Leukemia (HCL). Detection of this mutation has found a diagnostic and therapeutic value. The aim of the present study was comparing the diagnostic value of BRAF V600E mutation detection with other previous methods in diagnosis of HCL patients. Materials & M...

Journal: :Clinical Microbiology and Infection 2021

ObjectivesUndetectable or low-level hepatitis B virus (HBV) DNA and drug resistance mutations in patients may increase the risk of HBV transmission cause active viral replication other clinical problems. Here, we established a highly sensitive practical method for detection using polymerase chain reaction (PCR) -based CRISPR-Cas13a system (referred to as PCR-CRISPR) evaluated its capability sam...

Background: Hearing impairment as a heterogeneous disorder is the most common sensory defect that occur 1 in 1000. Mutations in GJB2 (CX26) gene at DFNB1 locus on 13q12 are responsible for autosomal recessive non-syndromic hearing loss (ARNSHL) in many populations. This study investigates the GJB2 gene mutations in deaf patients refereed to the deaf center of Tabriz. Methods: In the present ...

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