PMID: 12658399

Hayakawa T, Naruse S, Kitagawa M, Ishiguro H, Jin CX, Kondo T
Clinical evidence of pathogenesis in chronic pancreatitis.
J Hepatobiliary Pancreat Surg. 2002;9(6):669-74., [PubMed]
Sentences
No. Mutations Sentence Comment
39 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 12658399:39:276
status: NEW
view ABCC7 p.Arg117His details
 Hereditary pancreatitis Clinical background Hereditary pancreatitis is a rare condition characterized by acute and chronic pancreatitis in an autosomal dominant fashion at a penetrance of 80%.14,15 A genetic defect was first identified by Whitcomb et al.,16 who described the R117H mutation (R122H in the trypsin nomenclature) in the cationic trypsinogen gene. Login to comment