PMID: 11916201

Teich N, Walther K, Bodeker H, Mossner J, Keim V
Relevance of variants in serum antiproteinases for the course of chronic pancreatitis.
Scand J Gastroenterol. 2002 Mar;37(3):360-5., [PubMed]
Sentences
No. Mutations Sentence Comment
47 ABCC7 p.Glu264Val
X
ABCC7 p.Glu264Val 11916201:47:4
status: NEW
view ABCC7 p.Glu264Val details
 The E264V mutation in exon 3, resulting in the PiS mutation, was investigated using a mutation speci c PCR approach. Login to comment 80 ABCC7 p.Glu264Val
X
ABCC7 p.Glu264Val 11916201:80:379
status: NEW
view ABCC7 p.Glu264Val details
 Distribution of AAT variants in patients with chronic pancreatitis of different genetic background and controls Chronic pancreatitis Controls All PRSS1 SPINK1 IP 64 124 21 54 49 Age Median 29 19 35 25 12 Range 18-53 2-78 2-78 8-64 4-23 AAT variant R101H 30% 36% 38% 30% 41% ^19, *0 ^43, *1 ^8, *0 ^15, *1 ^20, *0 V213A 44% 43% 23% 43% 51% ^24, *4 ^40, *13 ^4, *1 ^17, *6 ^19, *6 E264V 3% 4% 10% 4% 2% ^2, *0 ^5, *0 ^2, *0 ^2, *0 ^1, *0 E342K 5% 2% 0% 0% 4% ^2, *1 ^2, *0 ^0, *0 ^0, *0 ^2, *0 E376D 39% 43% 33% 39% 51% ^24, *1 ^43, *10 ^5, *2 ^15, *6 ^23, *2 No 23% 19% 29% 20% 14% ^ Heterozygous, * homozygous. Login to comment