نتایج جستجو برای: mutation detection

تعداد نتایج: 844642  

Journal: :iranian journal of basic medical sciences 0
abdolvahab moradi infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran sareh zhand infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran amir ghaemi infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran naeme javid infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran masoud bazouri infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran alijan tabarraei infectious diseases research center, department of microbiology, school of medicine, golestan university of medical sciences, gorgan, iran

objective(s): it has been reported that the mutation of the pre-core (pc) and basal-core promoter (bcp) may play an important role in the development of hbv-related hepatocellular carcinoma (hcc). in this study the pc and bcp mutations were investigated in chronic hbv patients. materials and methods:in this study, 120 chronic hbv patients from golestan, northeast of iran who were not vaccinated...

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 Background: Breast cancer is one of the most common cancer of women in the world.  Although different genetic alteration has been reported in this malignancy, but P 53 gene  mutations has more frequency. P 53 gene is one of the most important suppressor genes and it  play a central role in breast cancer and detecting of mutations in this gene would be very helpful in understanding of genetic m...

Journal: :Blood 2007
E Jennifer Edelman Yelena Maksimova Feride Duru Cigdem Altay Patrick G Gallagher

Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de novo mutations, and associated mRNA instability. Using denaturing high-performance liquid chromatography (DHPLC)-based mutation detection, a mutation in the splice acceptor of ...

Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date. According to the studies, mutations in GJB2 are estimated to be involved in 50- 80% of autosomal recessive non-syndromic hearing loss cases, but contribution of other loci in this disorder is yet ambig...

2014
Xiaohong Han Zhishang Zhang Di Wu Yinchen Shen Shuai Wang Lin Wang Yutao Liu Sheng Yang Xingsheng Hu Yun Feng Yan Sun Yuankai Shi

BACKGROUND Epidermal growth factor receptor (EGFR) mutation status is crucial in treatment selection for non-small cell lung cancer (NSCLC) patients; however, the detection materials' availability remains challenging in clinical practice. In this study, we collected surgical resection tissues, lymph node biopsy, and cytological samples for EGFR mutation testing and investigated the associations...

Journal: :Journal of medical genetics 2010
Yvonne J Vos Hermien E K de Walle Krista K Bos Jenneke A Stegeman Annelies M Ten Berge Martijn Bruining Merel C van Maarle Mariet W Elting Nicolette S den Hollander Ben Hamel Ana Maria Fortuna Lone E M Sunde Irene Stolte-Dijkstra Connie T R M Schrander-Stumpel Robert M W Hofstra

OBJECTIVES To develop a comprehensive mutation analysis system with a high rate of detection, to develop a tool to predict the chance of detecting a mutation in the L1CAM gene, and to look for genotype-phenotype correlations in the X-linked recessive disorder, L1 syndrome. METHODS DNA from 367 referred patients was analysed for mutations in the coding sequences of the gene. A subgroup of 100 ...

Journal: :modares journal of medical sciences: pathobiology 2009
abdolhossein dalimi fatemeh jalousian siamak mirab samiee fatemeh ghaffarifar faramarz soleymanlou

objective: plasmodium falciparum chloroquine resistance is a major problem in malaria endemic areas. single nucleotide polymorphisms in pfcrt and pfmdr1 genes are known to be associated with chloroquine resistance in some parts of the world. the major goal of the present study was to detect the five single nucleotide polymorphisms in pfmdr1 gene and one single nucleotide polymorphisms in pfcrt ...

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