PMID: 11804840

Mall M, Gonska T, Thomas J, Hirtz S, Schreiber R, Kunzelmann K
Activation of ion secretion via proteinase-activated receptor-2 in human colon.
Am J Physiol Gastrointest Liver Physiol. 2002 Feb;282(2):G200-10., [PubMed]
Sentences
No. Mutations Sentence Comment
50 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 11804840:50:164
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 11804840:50:193
status: NEW
view ABCC7 p.Arg117His details
ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 11804840:50:156
status: NEW
view ABCC7 p.Trp1282* details
ABCC7 p.Arg553*
X
ABCC7 p.Arg553* 11804840:50:171
status: NEW
view ABCC7 p.Arg553* details
ABCC7 p.Arg334Trp
X
ABCC7 p.Arg334Trp 11804840:50:186
status: NEW
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ABCC7 p.Arg347Pro
X
ABCC7 p.Arg347Pro 11804840:50:268
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 11804840:50:130
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 11804840:50:123
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Arg1162*
X
ABCC7 p.Arg1162* 11804840:50:178
status: NEW
view ABCC7 p.Arg1162* details
ABCC7 p.Ser1251Asn
X
ABCC7 p.Ser1251Asn 11804840:50:282
status: NEW
view ABCC7 p.Ser1251Asn details
ABCC7 p.Glu60*
X
ABCC7 p.Glu60* 11804840:50:324
status: NEW
view ABCC7 p.Glu60* details
 Testing of an additional panel of the 19 most prevalent CFTR mutations among the Caucasian population in Europe, including G542X, N1303K, 1717-1 GϾT, W1282X, G551D, R553X, R1162X, R334W, R117H, 621ϩ1GϾT, 3849ϩ10kbCϾT, 3659delC, 1078delT, R347P, A445E, S1251N, ⌬I507, 2183AAϾG, and E60X (ELUCIGENE CF20; AstraZeneca Diagnostics) failed to identify the second disease causing mutation in six CF patients. Login to comment