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PMID: 10980944
Bornstein JD, Cohn JA
Cystic fibrosis in the pancreas: recent advances provide new insights.
Curr Gastroenterol Rep. 1999 Apr;1(2):161-5.,
[PubMed]
Sentences
No.
Mutations
Sentence
Comment
64
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10980944:64:63
status:
NEW
view ABCC7 p.Arg117His details
The two genotypes found in these three patients (⌬F508/
R117H
;9T/7T and ⌬F508/WT;9T/5T) are the most common CBAVD genotypes [21••,24], and each is known not to cause CF [25].
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99
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10980944:99:157
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 10980944:99:391
status:
NEW
view ABCC7 p.Arg117His details
ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 10980944:99:430
status:
NEW
view ABCC7 p.Asn1303Lys details
Genotypes of Seven ICP Patients with CFTR mutations Patient Gender Mutations Intron 8 Age at onset, y ICP # Days hospitalized ERCP class 1 Male ⌬F508/
R117H
9T/7T 45 11 46 Moderate 2 Female ⌬F508/wt 9T/5T 32 7 52 Moderate 3 Female ⌬F508/wt 9T/5T 48 20 100+ Moderate 4 Female ⌬F508/wt 9T/7T 40 25 100+ Moderate 5 Female ⌬F508/wt 9T/7T 15 16 62 Mild 6 Female
R117H
/wm 7T/7T 32 6 60 Moderate 7 Male
N1303K
/wt 7T/9T 43 1 6 Moderate ERCP-endoscopic retrograde cholangiopancreatography; ICP-idiopathic chronic pancreatitis.
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