PMID: 19951905

Grocock CJ, Rebours V, Delhaye MN, Andren-Sandberg A, Weiss FU, Mountford R, Harcus MJ, Niemczyck E, Vitone LJ, Dodd S, Jorgensen MT, Ammann RW, Schaffalitzky de Muckadell O, Butler JV, Burgess P, Kerr B, Charnley R, Sutton R, Raraty MG, Deviere J, Whitcomb DC, Neoptolemos JP, Levy P, Lerch MM, Greenhalf W
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
Gut. 2010 Mar;59(3):357-63. Epub 2009 Dec 1., [PubMed]
Sentences
No. Mutations Sentence Comment
47 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 19951905:47:184
status: NEW
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ABCC7 p.Arg117His
X
ABCC7 p.Arg117His 19951905:47:141
status: NEW
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ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 19951905:47:171
status: NEW
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ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 19951905:47:130
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 19951905:47:121
status: NEW
view ABCC7 p.Gly542* details
 Exon 3 of SPINK1 was sequenced to identify any possible p.N34S mutations and CFTR was tested in all cases for p.DF508, p.G542X, p.N1303K, p. R117H, 621+1 G-T, 1898+1GA, p.W1282X and p.G551D and in some cases with an additional 24 markers according to the recommendations of the American College of Medical Genetics (ACMG) and the American College of Obstetricians and Gynaecologists (ACOG).15 In this study affected p.A16V carriers were also tested for mutations in CTRC exons 2, 3 and 7. Login to comment