ABCMdb

PMID: 10470322

Cohn JA, Jowell PS
Are mutations in the cystic fibrosis gene important in chronic pancreatitis?
Surg Clin North Am. 1999 Aug;79(4):723-31, viii., [PubMed]

Sentences

No. Mutations Sentence Comment

40 ABCC7 p.Arg117His Finally, 3 of the 27 patients had genotypes in which both copies of the CFTR gene were abnormal, representing an 80-fold increase in the frequency for these rare genotypes (P < 0.00001).The two genotypes found in these three patients (AF508/R117H;9T/T and AF508/ WT;9T/5T) are the most common CBAVD genotypes? Login to comment 44 ABCC7 p.Arg117His ABCC7 p.Arg117His ABCC7 p.Asn1303Lys D Class #1 M AF508/R117H 9T/7T 45 1 1 46 moderate #2 F AF508/wt 9T/5T 32 7 52 moderate #3 F AF508/wt 9T/5T 48 20 100+ moderate #4 F AF508/wt 9T/7T 40 25 100+ moderate #5 F AF508/wt 9T/7T 15 16 62 mild #6 F R117H/wt nm 32 6 60 moderate #7 M N1303K/wt 7T/9T 43 1 6 moderate MUTATIONS IN THE CF GENE IMPORTANT IN CHRONIC PANCREATITIS? Login to comment