The ITPA c.94C>A and g.IVS2+21A>C sequence variants contribute to missplicing of the ITPA gene
نویسندگان
چکیده
منابع مشابه
contribution of setting to the study of characters and the main idea in e. brontes: wuthering heights and t. hardys: return of the native.
this thesis aims to adduce an unmitigated and comprehensive explication concerning the relationship of three significant elements of fiction: setting, chracter and theme. my research is basically placed on two outstanding novels of the 19th century: emily brontes wuthering heights and thomas hardys return of the native. my endeavour lies in studying the correlation among the three above-mention...
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Interstitial lung diseases (ILD) comprise a number of clinical conditions, including sarcoidosis, pulmonary fibrosis and pulmonary Langerhans’ cell histiocytosis (PLCH; histiocytosis X). The diagnostic workup for the classification of ILD is often complicated and tedious. PLCH is characterised by the proliferation of Langerhans’ cells and their infiltration into pulmonary tissues. In disseminat...
متن کاملCloning, expression, and characterization of a human inosine triphosphate pyrophosphatase encoded by the itpa gene.
ITP and dITP exist in all cells. dITP is potentially mutagenic, and the levels of these nucleotides are controlled by inosine triphosphate pyrophosphatase (EC ). Here we report the cloning, expression, and characterization of a 21.5-kDa human inosine triphosphate pyrophosphatase (hITPase), an enzyme whose activity has been reported in many animal tissues and studied in populations but whose pro...
متن کاملa synchronic and diachronic approach to the change route of address terms in the two recent centuries of persian language
terms of address as an important linguistics items provide valuable information about the interlocutors, their relationship and their circumstances. this study was done to investigate the change route of persian address terms in the two recent centuries including three historical periods of qajar, pahlavi and after the islamic revolution. data were extracted from a corpus consisting 24 novels w...
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پس ازفروپاشی شوروی،رشد منابع نفت و گاز، آسیای میانه و قفقاز را در یک بازی ژئوپلتیکی انرژی قرار داده است. با در نظر گرفتن این منابع هیدروکربنی، این منطقه به یک میدانجنگ و رقابت تجاری برای بازی های ژئوپلتیکی قدرت های بزرگ جهانی تبدیل شده است. روسیه منطقه را به عنوان حیات خلوت خود تلقی نموده و علاقمند به حفظ حضورش می باشد تا همانند گذشته گاز طبیعی را به وسیله خط لوله مرکزی دریافت و به عنوان یک واس...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2007
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2006.10.006