ABCMdb

PMID: 20059346

Whitcomb DC
Genetic aspects of pancreatitis.
Annu Rev Med. 2010;61:413-24., [PubMed]

Sentences

No. Mutations Sentence Comment

49 ABCC7 p.Ile556Val However, the CFTR I556V CFmild-variant mutation was observed in 12 of 46 (26.1%) patients with AP, and only in 1 of 80 (1.3%) hypertriglyceridemic patients without AP ( p < 0.0001). Login to comment 154 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro Other recent case reports and small studies have associated pancreatitis with the following CFTR mutations: D1152H/D1152H (54), W1282X/5T, D1152H/5T, W1282X/- (55), and in Hispanics, S531P/S531P (56). Login to comment 155 ABCC7 p.Trp1282* ABCC7 p.Trp1282* ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro Other recent case reports and small studies have associated pancreatitis with the following CFTR mutations: D1152H/D1152H (54), W1282X/5T, D1152H/5T, W1282X/- (55), and in Hispanics, S531P/S531P (56). Login to comment 313 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P. Login to comment 314 ABCC7 p.Ser531Pro ABCC7 p.Ser531Pro The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P. Login to comment