Pancreatitis

Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis
C Férec, O Raguénès, R Salomon, C Roche, J P Bernard, M Guillot, I Quéré, C Faure, B Mercier, M P Audrézet, P J Guillausseau, C Dupont, A Munnich, J D Bignon, L Le Bodic

Journal of Medical Genetics Mar 1999, 36 (3) 228-232; DOI: 10.1136/jmg.36.3.228
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis
G R Chandak, M M Idris, D N Reddy, S Bhaskar, P V J Sriram, L Singh

Journal of Medical Genetics May 2002, 39 (5) 347-351; DOI: 10.1136/jmg.39.5.347
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations
Richárd Szmola, Miklós Sahin-Tóth

Journal of Medical Genetics May 2010, 47 (5) 348-350; DOI: 10.1136/jmg.2009.072751
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site
P Felderbauer, J Schnekenburger, R Lebert, K Bulut, M Parry, T Meister, V Schick, F Schmitz, W Domschke, W E Schmidt

Journal of Medical Genetics Aug 2008, 45 (8) 507-512; DOI: 10.1136/jmg.2007.056481
High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis
V N Ninis, M O Kýlýnç, M Kandemir, E Daðlý, A Tolun

Journal of Medical Genetics Jul 2003, 40 (7) 530-535; DOI: 10.1136/jmg.40.7.530
Rapid detection of CFTR gene rearrangements impacts on genetic counselling in cystic fibrosis
F Niel, J Martin, F Dastot-Le Moal, B Costes, B Boissier, V Delattre, M Goossens, E Girodon

Journal of Medical Genetics Nov 2004, 41 (11) e118; DOI: 10.1136/jmg.2004.022400
Distribution of CFTR gene mutations in cystic fibrosis patients from Estonia
MARIS TEDER, TIINA KLAASSEN, ENELI OITMAA, KRISTA KAASIK, ANDRES METSPALU

Journal of Medical Genetics Aug 2000, 37 (8) e16; DOI: 10.1136/jmg.37.8.e16
A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
C Gendrot, Y Bacq, M-C Brechot, J Lansac, C Andres

Journal of Medical Genetics Mar 2003, 40 (3) e32; DOI: 10.1136/jmg.40.3.e32
A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis
JIAN-MIN CHEN, ODILE RAGUENES, CLAUDE FEREC, PIERRE H DEPREZ, CHRISTINE VERELLEN-DUMOULIN

Journal of Medical Genetics Nov 2000, 37 (11) e36; DOI: 10.1136/jmg.37.11.e36
SPINK1 mutations and phenotypic expression in patients with pancreatitis associated with trypsinogen mutations
F U Weiss, P Simon, H Witt, J Mayerle, V Hlouschek, K P Zimmer, J Schnekenburger, W Domschke, J P Neoptolemos, M M Lerch

Journal of Medical Genetics Apr 2003, 40 (4) e40; DOI: 10.1136/jmg.40.4.e40

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