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80. Cystás fibrosis & bronchiectasia

TermDefinition
definicíó autoszomális recesszív, halálos kimenetelű, mely a bőr, a tüdő, a GIS (bél, máj, epevezeték, pancreas) és a gonádok károsodásával jár - a leggyakoribb veleszületett genetikai betegség a kaukázusi populációban
mi okozza? 7-es kromoszómán CFTR mutáció Cl- csatorna szerepet tölt be
CFTR rövidítése cisztás fibrosis transzmembrán konduktancia regulátor
I. szintézis ⚡
II. érési ⚡ korai lebontás
III. szabályozási ⚡
IV. cl- tr., kapunyitási ⚡
V. promoter/splicing ⚡miatti csökkent átírás
VI. fokozott turnover
Created by: Farmakodinámia
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