ABCMdb

PMID: 20108119

Joergensen M, Brusgaard K, Cruger DG, Gerdes AM, de Muckadell OB
Incidence, prevalence, etiology, and prognosis of first-time chronic pancreatitis in young patients: a nationwide cohort study.
Dig Dis Sci. 2010 Oct;55(10):2988-98. Epub 2010 Jan 28., [PubMed]

Sentences

No. Mutations Sentence Comment

47 ABCC7 p.Arg553* The samples were also tested for 33 CFTR mutations: 394delTT, R553X, 621 ? Login to comment 48 ABCC7 p.Trp1282* ABCC7 p.Gly542* ABCC7 p.Arg1162* 1G [ T, R1162X, 1717-1G [ A, 3659delC, G542X, 2183A [ G, W1282X, 1078delT, 711 ? Login to comment 49 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Arg347Pro ABCC7 p.Arg347His ABCC7 p.Ser549Arg ABCC7 p.Gly85Glu ABCC7 p.Arg560Thr 1G [ T, F508del, S549 N, I507del, S549R, 2184delA, G551D, G85E, N1303 K, R560T, R117H, R347H, R347P, R334 W, 2789 ? Login to comment 52 ABCC7 p.Val520Phe 1G [ A, V520F, 1898 ? Login to comment 116 ABCC7 p.Arg117His Five had also PRSS1 mutations as mentioned above, three a CFTR mutation, two of these were women (1 F508del and 1IVS8-5T) and one was a man (1 R117H). Login to comment 118 ABCC7 p.Arg117His Two women and 1 man had a F508del mutation, 5 women an IVS8-5T mutation and 2 women and 1 man a R117H mutation. Login to comment 119 ABCC7 p.Arg117His One woman both had a R117H and an IVS8-5T mutation. Login to comment