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Distribucija mutacija u F8 genu kod pacijenata iz Srbije obolelih od hemofilije A

Distribution of F8 gene mutations in Serbian hemophilia A patients

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2015
Disertacija964.pdf (3.119Mb)
Ilic_Nina_S.pdf (105.0Kb)
Author
Ilić, Nina S.
Mentor
Guć-Šćekić, Marija
Committee members
Tanić, Nasta
Veljković, Dobrila
Kuzmanović, Miloš
Zeljić, Katarina
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Abstract
Uvod: Hemofilija A (HA) je X-vezano recesivno oboljenje, koje spada u grupu koagulopatija. Nastaje kao posledica mutacija u F8 genu (Xq28) i javlja se sa uĉestalost od 1:5 000 muškaraca. U cilju odreĊivanja distribucije mutacija kod obolelih od HA sa terit (...)
Introduction: Hemophilia A (HA) is a common X-linked recessive bleeding disorder, with incidence of 1 in 5 000 male and caused by mutations of F8 gene (Xq28). In order to detect the distribution of F8 mutations in Serbian HA population, , the analyses for (...)
Faculty:
University of Belgrade, Faculty of Biology
Date:
27-01-2015
Keywords:
hemofilija A / hemophilia A / inv22 / inv1 / velike delecije / taĉkaste mutacije / IS-PCR / MLPA / uĉestalost / Srbija / inv22 / inv1 / large deletions / point mutations / IS-PCR / MLPA / frequency / Serbia
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URI
http://nardus.mpn.gov.rs/handle/123456789/5285
http://eteze.bg.ac.rs/application/showtheses?thesesId=2856
https://fedorabg.bg.ac.rs/fedora/get/o:11064/bdef:Content/download
http://vbs.rs/scripts/cobiss?command=DISPLAY&base=70036&RID=1024914354

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