PCD (Blouin)

Description

3e Biomed (Génétique médicale) Flashcards on PCD (Blouin), created by eliott bosshard on 12/02/2019.
eliott bosshard
Flashcards by eliott bosshard, updated more than 1 year ago
eliott bosshard
Created by eliott bosshard almost 3 years ago
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Resource summary

Question Answer
Définition hétérogénéité génique et allélique 1) génique: diff gènes causent la mm maladie 2) allélique: diff mut du mm gène cause la mm maladie
Définition maladie rare prévalence < 1/2000
Qu'est ce que la dyskinésie ciliaire primaire (PCD)? = syndrome de Kartagener 1) signes cliniques: -> inf du sys respi -> bronchite -> hétérotaxie -> hypofertilité 2) atteinte des cils motiles uniquement -> anomalie structure ou motilité
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