PMID: 12634855

Perri F, Piepoli A, Andriulli A
On the role of CFTR, PSSR1 and PST1/SPINK1 in idiopathic chronic pancreatitis.
Eur J Hum Genet. 2003 Feb;11(2):107; author reply 108., [PubMed]
Sentences
No. Mutations Sentence Comment
24 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 12634855:24:150
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg75Gln
X
ABCC7 p.Arg75Gln 12634855:24:213
status: NEW
view ABCC7 p.Arg75Gln details
ABCC7 p.Asn187Lys
X
ABCC7 p.Asn187Lys 12634855:24:171
status: NEW
view ABCC7 p.Asn187Lys details
 Table 1 Sequence variation identified in the PRSS1, PSTI, and CFTR genes in 37 Italian patients with ICP CFTR Patient PRSS1 PSTI Mutant PolyT 1 - a - W1282X/N 7T/9T 2 - - N187K/N 7T/7T 3 - - 711+1G/1T 7T/7T 4 - - R75Q/N 7T/9T 5 - - NDb ND 6 - - - 5T/9T 7 - - - 5T/7T 8 - - - 5T/7T 9 - - - 5T/7T 10 - - - 5T/7T 11 - P55S - 5T/7T 12 to 37 - - - 7T/7T or 7T/9T a Indicates two wild alleles. Login to comment