PMID: 12499931

Hayakawa T, Naruse S, Kim KH, Go VL
2nd international symposium: Frontiers in pancreatic research-from basics to clinic and exocrine glands, Japan-Korea.
Pancreas. 2003 Jan;26(1):e1-11., [PubMed]
Sentences
No. Mutations Sentence Comment
191 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 12499931:191:130
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12499931:191:25
status: NEW
view ABCC7 p.Arg117His details
 Notably, the mutant CFTR(R117H), associated with a mild form of CF, showed reduced activation of DRA/CLD, whereas the mutant CFTR(G551D), associated with a severe form of CF, was unable to activate Cl- /HCO3 - exchange by DRA/CLD. Login to comment