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Samenvatting Gezonde en zieke cellen I | Overzicht ziektebeelden en signaalroutes $3.30   Add to cart

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Samenvatting Gezonde en zieke cellen I | Overzicht ziektebeelden en signaalroutes

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Alle ziektebeelden en signaalroutes in schematische overzichten over de stof uit alle onderwijsvormen van gezonde en zieke cellen I. (Oesteogenesis imperfecta, Marfan syndroom, sikkelcelanemie, erfelijke sferocytose, I-cell disease of mucolipidosis II, familiaire hypercholesterolemie, Cystic Fibros...

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  • October 23, 2020
  • December 21, 2022
  • 9
  • 2020/2021
  • Summary
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GZC I overzicht ziektebeelden



Week 1
Oesteogenesis Imperfecta Marfan syndroom Sikkelcelanemie Erfelijke sferocytose
Overerving Autosomaal dominant Autosomaal dominant Autosomaal recessief Autosomaal dominant
1 Ankyrine
Niet-functionerend 2 Band 3
Collageen type I Fibrilline-1 Β-globine
eiwit 3 Band 4.2
4 Spectrine
1 Frameshift
Vervanging glycine → ander Mutaties in genen die 1 Vervanging glutamaat →
Oorzaak 2 Te vroege stopcodon, leidt
aminozuur coderen voor FBN-1 valine of stopcodon
tot geen synthese
Treksterkte en veerkracht 1 Grootste onderdeel van 1 twee β-globineketens + Skelet vormen dat
bieden microfibrillen in ECM → twee α-globineketens plasmamembraan
Lineaire fibrillen vormen vormen steigers voor vormen hemoglobine stabiliseert
Normale functie bindweefsel in: elastine 2 Transport O2 en CO2
1 Kraakbeen 2 Vooral aanwezig in aorta
2 Bloedvaten en ligamenten
3 Huid
4 Helende wonden
5 Littekens
1 Extreem breekbare botten 1 Lange extremiteiten door 1 Anemie 1 Anemie
2 Blauw oogwit overschot TGF-β 2 Ischemie 2 Splenomegalie
Ziekteverschijnselen 3 Gehoorverlies 2 Aortadilatatie 3 Icterus 3 Icterus
4 Kleine, misvormde, blauw- 3 Mitralisklepprolaps
gele tanden 4 Zwakke ligamenten
5 Kyfose of scoliose




GZC I → overzicht ziektebeelden → 1

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