ABCMdb

PMID: 19453252

Chen JM, Ferec C
Chronic pancreatitis: genetics and pathogenesis.
Annu Rev Genomics Hum Genet. 2009;10:63-87., [PubMed]

Sentences

No. Mutations Sentence Comment

52 ABCC7 p.Arg117His The Old Chymotrypsinogen Numbering System Versus the New Standard Numbering System Although the first two HP-causing missense mutations in the PRSS1 gene, R117H (139) and N21I (46), were originally named under the old chymotrypsinogen numbering system, all those subsequently found have been numbered in accordance with the new standard numbering system in which the initiator methionine is counted as +1. Login to comment 53 ABCC7 p.Arg117His R117H and N21I were renamed R122H and N29I in 2000. Login to comment 601 ABCC7 p.Leu997Phe Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Mol. Genet. Metab. 92:168-75 www.annualreviews.org • Chronic Pancreatitis 83 Annu.Rev.Genom.HumanGenet.2009.:63-87.Downloadedfromwww.annualreviews.org 80. Login to comment 603 ABCC7 p.Leu997Phe Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. Mol. Genet. Metab. 92:168-75 www.annualreviews.org • Chronic Pancreatitis 83 Annu.Rev.Genom.HumanGenet.2009.:63-87.Downloadedfromwww.annualreviews.org 80. Login to comment