PMID: 11840029

Witt H, Becker M
Genetics of chronic pancreatitis.
J Pediatr Gastroenterol Nutr. 2002 Feb;34(2):125-36., [PubMed]
Sentences
No. Mutations Sentence Comment
223 ABCC7 p.Leu327Arg
X
ABCC7 p.Leu327Arg 11840029:223:24
status: NEW
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 One of these mutations, L327R, segregated with the disease within the family. Login to comment 231 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11840029:231:67
status: NEW
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 One patient was compound heterozygous for the ⌬F508 and the R117H mutation and 2 patients were heterozygous for the ⌬F508 mutation and the 5T allele. Login to comment 246 ABCC7 p.Glu264Val
X
ABCC7 p.Glu264Val 11840029:246:160
status: NEW
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 There are two frequent genetic defects in the gene that lead to an ␣1-antitrypsin deficiency: a glutamine-to-valine substitution at codon 264 in exon 5 (E264V) (PiS) and a glutamine to lysine substitution at codon 342 in exon 7 (E342K) (PiZ) (91). Login to comment