PMID: 26335336

Zhang Y, O'Brien WG 3rd, Zhao Z, Lee CC
5'-adenosine monophosphate mediated cooling treatment enhances DeltaF508-Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) stability in vivo.
J Biomed Sci. 2015 Sep 4;22:72. doi: 10.1186/s12929-015-0178-3., [PubMed]
Sentences
No. Mutations Sentence Comment
20 ABCC8 p.Val187Asp
X
ABCC8 p.Val187Asp 26335336:20:75
status: NEW
view ABCC8 p.Val187Asp details
ABCC8 p.Ala116Pro
X
ABCC8 p.Ala116Pro 26335336:20:65
status: NEW
view ABCC8 p.Ala116Pro details
 Two mutations in the pancreatic ATP-sensitive potassium channels A116P and V187D, located in the SUR1 subunit, reduce channel activity leading to persistent infancy hyperinsulinemic hypoglycemia. Login to comment