RNA Details
Disease Name
cystic fibrosis
Tissue
pancreas
RNA Symbol
W1316X
RNA ID
RNA Type
mRNA
Alteration Pattern
dysregulation
Species
homo sapiens
Detection Methods
NA
Target
NA
Pathway
NA
PubMed ID
Title
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis
Year
1991
Function
"We conclude that severe reduction in cftr mrna causes cf, but can have different consequences in the lung and pancreas."