QuestionSBA
QuestionChoice
This is a class 5 mutation
10006113
c
Splicing defect reducing quantity of correct mRNA leading to less CFTR at the cell surface
QuestionChoice
This is a class 3 mutation
10006114
d
Reduced probability of the CFTR channel opening
QuestionChoice
This is a class 6 mutation
10006112
b
Accelerated turnover of CFTR at cell surface
QuestionChoice
This is a class 2 mutation
10006115
e
Defective post translational processing and transport reducing the quantity of functional CFTR delivered to the cell surface
QuestionChoice
Cystic fibrosis is an inherited autosomal recessive condition caused by mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. There are different mutations of the CFTR that fall into different classes.
10006111
a
Defective synthesis of a full length cystic fibrosis transmembrane conductance regulator (CFTR) protein (e.g premature stop codon)
Concept
Chapter
2693
4477
Cystic fibrosis
Topic
153
Paediatrics
13769
What is a class 1 mutation in cystic fibrosis?
a