PMID: 11569691

Truninger K, Malik N, Ammann RW, Muellhaupt B, Seifert B, Muller HJ, Blum HE
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis.
Am J Gastroenterol. 2001 Sep;96(9):2657-61., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11569691:50:105
status: NEW
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Blood samples were also collected from 10 members of five HP families, i.e., (i) seven patients with the R117H mutation of the cationic trypsinogen gene; (ii) one patient with the A16V mutation of the cationic trypsinogen gene; and (iii) a family with two affected brothers who tested negative for mutations of this gene. Login to comment
56 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11569691:56:156
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11569691:56:300
status: NEW
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ABCC7 p.Ala455Glu
X
ABCC7 p.Ala455Glu 11569691:56:363
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11569691:56:250
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 11569691:56:163
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 11569691:56:356
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 11569691:56:342
status: NEW
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ABCC7 p.Arg347His
X
ABCC7 p.Arg347His 11569691:56:349
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11569691:56:268
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11569691:56:149
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11569691:56:232
status: NEW
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ABCC7 p.Gln493*
X
ABCC7 p.Gln493* 11569691:56:124
status: NEW
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ABCC7 p.Val520Phe
X
ABCC7 p.Val520Phe 11569691:56:131
status: NEW
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ABCC7 p.Ser549Arg
X
ABCC7 p.Ser549Arg 11569691:56:177
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 11569691:56:276
status: NEW
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ABCC7 p.Ser549Asn
X
ABCC7 p.Ser549Asn 11569691:56:184
status: NEW
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ABCC7 p.Tyr122*
X
ABCC7 p.Tyr122* 11569691:56:307
status: NEW
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ABCC7 p.Arg560Thr
X
ABCC7 p.Arg560Thr 11569691:56:170
status: NEW
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Using multiplex PCR, 15 genomic fragments were amplified which contain the following mutations: ⌬F508, ⌬I507, Q493X, V520F, 1717-1G3A, G542X, G551D, R553X, R560T, S549R, S549N, 3849 ϩ 10kbC3T, 3849 ϩ 4A3G, R1162X, 3659delC, W1282X, 3905insT, N1303K, G85E, 621 ϩ 1G3T, R117H, Y122X, 711 ϩ 1G3T; 1078delT, R347P, R347H, R334W, A455E, 1898 ϩ 1G3A, 2183AA3G, 2789 ϩ 5G3A. Login to comment