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The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease.
Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, Jansen J, Charnley R, Laugier R, Frulloni L, Oláh A, Delhaye M, Ihse I, Schaffalitzky de Muckadell OB, Andrén-Sandberg A, Imrie CW, Martinek J, Gress TM, Mountford R, Whitcomb D, Neoptolemos JP. Threadgold J, et al. Among authors: schaffalitzky de muckadell ob. Gut. 2002 May;50(5):675-81. doi: 10.1136/gut.50.5.675. Gut. 2002. PMID: 11950815 Free PMC article.
The variable phenotype of the p.A16V mutation of cationic trypsinogen (PRSS1) in pancreatitis families.
Grocock CJ, Rebours V, Delhaye MN, Andrén-Sandberg A, Weiss FU, Mountford R, Harcus MJ, Niemczyck E, Vitone LJ, Dodd S, Jørgensen MT, Ammann RW, Schaffalitzky de Muckadell O, Butler JV, Burgess P, Kerr B, Charnley R, Sutton R, Raraty MG, Devière J, Whitcomb DC, Neoptolemos JP, Lévy P, Lerch MM, Greenhalf W; European Registry of Hereditary Pancreatitis and Pancreatic Cancer. Grocock CJ, et al. Gut. 2010 Mar;59(3):357-63. doi: 10.1136/gut.2009.186817. Epub 2009 Dec 1. Gut. 2010. PMID: 19951905
[Hereditary pancreatitis].
Jørgensen MT, Schaffalitzky de Muckadell OB. Jørgensen MT, et al. Among authors: schaffalitzky de muckadell ob. Ugeskr Laeger. 2003 Jan 27;165(5):447-51. Ugeskr Laeger. 2003. PMID: 12599840 Review. Danish.
[Hereditary pancreatitis].
Tan M, Schaffalitzky de Muckadell OB, Jørgensen MT. Tan M, et al. Among authors: schaffalitzky de muckadell ob. Ugeskr Laeger. 2020 Feb 10;182(7):V11190676. Ugeskr Laeger. 2020. PMID: 32138812 Free article. Review. Danish.
247 results