CF Flashcards
1
Q
Cf gene
A
Cftr-chromosome 7 F508 del (delta 508)
2
Q
Class 1 mutation
A
Defective protein production
3
Q
Class 2 mutation
A
Defective protein processing
Delta 508
4
Q
Class 3 mutation
A
Defective regulation
Decreased activity in response to atp
5
Q
Class 4
A
Defective conduction
6
Q
Class 5
A
Reduced amounts of functional cftr protein
7
Q
Cftr related metabolic syndrome
A
Hypertrpsinogenemia newborn screen
