نتایج جستجو برای: novel mutation from iran
تعداد نتایج: 6278577 فیلتر نتایج به سال:
as a result of higher distributed consanguinity in the mediterranean region and the middle east, autosomal-recessive forms of charcot-marie-tooth (arcmt) are more common in these areas. cmt disease caused by mutations in the ganglioside-induced differentiation-associated protein 1 (gdap1) gene is a severe autosomal recessive neuropathy resulting in either demyelinating cmt4a neuropathy or axona...
the aim of this study was to identify the problems of translating markedness structures from english to persian in order to look closely at what possible difficulties translators may face. it also seeks to probe the strategies applied accordingly by iranian translators in translating them. from three translation of blindness novel, the sentences with marked structures were elicited and also the...
postcolonial feminism, also dubbed as third world feminism, is an innovative approach, demonstrating the way women of colonized countries suffer from both native patriarchies and imperial ideology. also due to this double-colonization, postcolonial feminists contend that third world women are subjected to both colonial domination of empire and male domination of patriarchy. while western femini...
leukocyte adhesion deficiency type-1(lad-1) is one of the autosomal recessive immunodeficiency diseases that results from mutation in integrin beta 2 (itgb2) gene. the aim of this study was to investigate molecular prenatal diagnosis of lad-1. four pregnant women with five fetuses (one twin fetus) with clinical and laboratory diagnosis of lad-1 in their previous children were studied. the chori...
how to cite this article: tonekaboni sh, aryani o, karimzadeh p, zaman t, ashrafi m, salehpour sh, dehghan manshadi m, khalili e, houshmand m. clinical and molecular study of npc in iran: report of 5 novel mutations. ir an j child neurol. 2015 autumn;9:4(suppl.1): 8-9. pls see pdf.
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 indivi...
charles dickens was a voracious reader even in his childhood. his early reading of seventeenth- and eighteenth-century picaresque fiction greatly influenced his writing style. his first novel, the pickwick papers, is a tale of rogues and swindlers, adventures and quests, satire and comedy, and innocence and experience. oliver twist, dickens’ second novel, is a young boy’s progress through a cor...
how to cite this article: ashrafi mr, tavasoli ar, katibeh p, aryani o, vafaee-shahi m. a novel mutation in aspartoacylase gene; canavan disease. iran j child neurol. autumn 2015; 9(4): 54-57. abstract objective canavan disease (cd) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination a...
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...
انمی داسی شکل و ا نمی کولی جز شایع ترین بیماریهای وراثتی در انسان ها در سرتاسر دنیا بوده که هزینه های درمانی هنگفتی را بر بیماران و سیستم بهداشتی کشورها می گذارد. انمی داسی شکل اولین اختلال ژنتیکی بوده که در حدود 58 سال پیش مکانیسم ژنتیکی اش توصیف شده و اختلالش ناشی از یک point mutation در زنجیره بتای همو گلوبین می باشد که سبب dysfunction پروتین هموگلوبین شده و عامل عوارض بالینی در مبتلایان می ...
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