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Thesis . 2020
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ATP7B geen: mutatsioonispekter Eesti Geenivaramu kohordis

descriptionPublicationkeyboard_double_arrow_right Thesis 01 Jan 2020 Estonia Publisher:Tartu Ülikool
Authors: Nurm, Miriam;

handle: 10062/69595

ATP7B geen: mutatsioonispekter Eesti Geenivaramu kohordis

Abstract

Wilsoni tõbi on autosoom-retsessiivne haigus, mida põhjustab defekt ATP7B geenis. Haigus on varakult alustatud raviga täiesti kontrollitav, kuid ravimata jätmisel võib tulemus olla elukvaliteeti oluliselt halvendav või letaalne. Samas on seniseid üldisi levimusandmeid arvestades põhjust arvata, et Wilsoni tõbi on ka Eestis pigem aladiagnoositud. Antud töö põhieesmärkideks oli tuvastada Eesti rahvastikku esindava Eesti Geenivaramu biopanga kohordi andmete põhjal võimalikud patogeensed ATP7B geeni variandid ning võimalusel määrata hinnanguliselt, kas Geenivaramu fenotüübiandmestik on rakendatav Wilsoni tõve uurimiseks Eestis. Töö tulemusena klassifitseeriti potentsiaalsed patogeensed ATP7B geenivariandid Geenivaramu kohordis ja fenotüübi andmete alusel defineeriti esmane minimaalne valim edasisteks uuringuteks.

Country
Estonia
Related Organizations
Keywords

Wilsoni tõbi, bakalaureusetööd, geneetiline tagasiside, vase ainevahetushäire

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
0
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