V katerih tkivih je strukturna vloga proteina fibrilin-1 še posebej pomembna?
Marfanov sindrom
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1.
FLASHCARD QUESTION
Front
Back
V steni aorte in visečih ligamentih leče
2.
FLASHCARD QUESTION
Front
Kakšna bolezen je MFS?
Back
Avtosomna dominantna bolezen vezivnega tkiva
3.
FLASHCARD QUESTION
Front
Ali je mutacijska analiza gena FBN1 zanesljiva diagnostična metoda za MFS?
Back
Ne, zaradi pomanjkanja specifičnosti v genotipu in fenotipskih raznolikosti
4.
FLASHCARD QUESTION
Front
Mutacija katerega gena povzroči nastanek MFS?
Back
Mutacija gena FBN1
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