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PMID: 17204147
Rosendahl J, Bodeker H, Mossner J, Teich N
Hereditary chronic pancreatitis.
Orphanet J Rare Dis. 2007 Jan 4;2:1.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
99
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 17204147:99:115
status:
NEW
view ABCC7 p.Ile148Thr details
However, the role of some CFTR mutations has to be reconsidered since Rohlfs et al. demonstrated that the mutation
I148T
in Exon 4, which was classified as a severe cystic fibrosis causing mutation, is not associated to cystic fibrosis.
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100
ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 17204147:100:56
status:
NEW
view ABCC7 p.Ile148Thr details
According to their data the complex allele 3199del6 and
I148T
seems to be the relevant factor [55].
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