ABCMdb

PMID: 9862818

Taylor CJ
Chronic pancreatitis and mutations of the cystic fibrosis gene.
Gut. 1999 Jan;44(1):8-9., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Gly551Asp ABCC7 p.Gly542* To date, more than 700 mutations have been identified in the CF gene; most, with the exception of G551D, G542X and 621+1 (G-A) are rare, aVecting <1% of CF chromosomes. Login to comment 61 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Ala455Glu ABCC7 p.Gly542* Reproduced with permission from Wilschanski et al.2 V Missense A455E Alternative splicing 3849+10kbC (f) IV Missense R117H (e) III Missense G551D (d) II Missense AA deletion ∆F508 (c) I Nonsense G542X Frameshift 394delTT Splice junction 1717-1G (b) Normal (a) T A Chronic pancreatitis and mutations of the cyctic fibrosis gene group.bmj.comon August 8, 2011 - Published bygut.bmj.comDownloaded from doi: 10.1136/gut.44.1.8 1999 44: 8-9Gut C J TAYLOR cystic fibrosis gene Chronic pancreatitis and mutations of the http://gut.bmj.com/content/44/1/8.full.html Updated information and services can be found at: These include: References http://gut.bmj.com/content/44/1/8.full.html#related-urls Article cited in: http://gut.bmj.com/content/44/1/8.full.html#ref-list-1 This article cites 4 articles, 2 of which can be accessed free at: service Email alerting box at the top right corner of the online article. Login to comment