نتایج جستجو برای: novel mutation from iran

تعداد نتایج: 6278577  

Journal: :genetics in the 3rd millennium 0
yousef shafeghati a. r. tavassoli f hadipour z. hadipour

farber lipogranulomatosis is a rare inherited condition involving the breakdown and use of fats in the body (lipid metabolism). characteristics are early-onset subcutaneous nodules, painful and progressively deformed joints, and hoarseness by laryngeal involvement in affected individuals, lipids accumulate abnormally in cells and tissues throughout the body, particularly around the joints. thre...

Journal: :iranian journal of allergy, asthma and immunology 0
shaghayegh tajik immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran mohsen badalzadeh immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran mohammad reza fazlollahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran massoud houshmand department of medical genetics, national institute of genetic engineering and biotechnology (nigeb), tehran, iran fariborz zandieh department of asthma, allergy and immunology, bahrami children hospital, tehran university of medical sciences, tehran, iran shamim khandan immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran

chronic granulomatous disease (cgd) is a rare primary immunodeficiency disorder due to a genetic defect in one of the components of nicotinamide adenine dinucleotide phosphate (nadph) oxidase complex. this complex is composed of membrane-bound gp91- phox and p22- phox subunits, and cytosolic subunits consisting of p47- phox , p67- phox , and p40- phox . a mutation in cybb gene encoding gp91- ph...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه رازی - دانشکده علوم 1388

based on the latest records of typhlops vermicularis merrem, 1820 from iran, this species is distributed in the northern and southern regions of the country. in this study, new records of typhlops vermicularis are presented and it is shown that distribution range of this species is extended towards the eastern and western iran, and according to the new distribution map, it can be assumed that t...

E Rezaei , H Dastsooz , H Faraji , J Manoochehri , Kh Sadeghi , M Fardaei , R Masoumi Dehshiri , S Mohammadi , T Moradi ,

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...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه شیخ بهایی - دانشکده زبانهای خارجی 1391

even though, to date, a lot of studies have been conducted on the subject of politeness theory, there are very few studies regarding the applicability of this theory to translation between english and persian which shows the reason behind conducting the present study. this study was carried out with the aim of highlighting whether there is any difference between english and persian methods of u...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علامه طباطبایی 1388

foreign policy takes root from complicated matters. however, this issue may be more truth about armenia. although the new government of armenia is less than 20 years, people of this territory are the first ones who officially accepted christianity. in very past times, these people were a part of great emperors like iran, rome, and byzantium.armenia is regarded as a nation with a privileged hist...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه شیراز - دانشکده زبانهای خارجی 1393

feminine voice and narratology in wuthering heights wuthering heights as a general "bronte" work has extraordinary dimensions to it which can make it focal to different ways of interpretation. among other differences the issue of narrative voice is essential in understanding the ultimate purpose of wuthering heights. emily bronte uses different narrators from various focal points speaking of m...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علامه طباطبایی - دانشکده علوم اجتماعی 1393

the present study is paid to the evaluation of the welfare program of the unemployment insurance in iran. the main purpose which was the main reason for performing this thesis, was the unemployment insurance plan’s challenges in iran such as financial problems of this plan, prolongation of the credit receipt for some insured people, unemployment slow exiting from the unemployment insurance fund...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه فردوسی مشهد - دانشکده علوم 1376

saluk mount is selected for devonian biostratigraphy. this area located at southwest of bojnurd. in this study three sections are selected and two sections, chahar-borj and tabar sections with a thickness of 650 m, which consist mainly of calcareous sediments was studied in detailed but third section, qelli section, with a thickness of about 450m which consist mainly of sandstone and evaporates...

Behnam Kamalidehghan, Massoud Houshmand, Nargesossadat Nouri, Nayerossadat Nouri, Omid Aryani,

Background: Mucopolysaccharidosis type-VI (MPS-VI), which is inherited as an autosomal recessive trait, results from the deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B) activity and the lysosomal accumulation of dermatan sulfate. In this study, ARSB mutation analysis was performed on three unrelated patients who were originally from the West Azerbaijan province of Iran. Method...

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