PMID: 18953248

Frulloni L, Scattolini C, Graziani R, Cavestro GM, Pravadelli C, Amodio A, Manfredi R, Scarpa A, Vantini I
Clinical and radiological outcome of patients suffering from chronic pancreatitis associated with gene mutations.
Pancreas. 2008 Nov;37(4):371-6., [PubMed]
Sentences
No. Mutations Sentence Comment
31 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 18953248:31:123
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 18953248:31:67
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 18953248:31:187
status: NEW
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ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 18953248:31:155
status: NEW
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ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 18953248:31:218
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 18953248:31:141
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 18953248:31:92
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 18953248:31:116
status: NEW
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ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 18953248:31:74
status: NEW
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ABCC7 p.Arg352Gln
X
ABCC7 p.Arg352Gln 18953248:31:148
status: NEW
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ABCC7 p.Ile148Thr
X
ABCC7 p.Ile148Thr 18953248:31:225
status: NEW
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ABCC7 p.Gly85Glu
X
ABCC7 p.Gly85Glu 18953248:31:169
status: NEW
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ABCC7 p.Gln552*
X
ABCC7 p.Gln552* 18953248:31:162
status: NEW
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All patients were tested for 25 CFTR gene mutations ($F508, $I507, R117H, R1162X, 2183AAYG, N1303K, 3849 + 10KbCYT, G542X, G551D, 1717-1GYA, R347P, R352Q, R553X, Q552X, G85E, 711 + 5GYA, W1282X, 3272-26AYG, 3132delTG, R334W, I148T, 3659del_C, 3120 + 1GYA, 1898 + 1GYA, and 2789 + 5GYA), which cover approximately 72% of the cystic fibrosis mutations in the Italian population. Login to comment