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Medline ® Abstract for Reference 26

of 'Hereditary pancreatitis'

26
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Hereditary pancreatitis caused by triplication of the trypsinogen locus.
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Le Maréchal C, Masson E, Chen JM, Morel F, Ruszniewski P, Levy P, Férec C
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Nat Genet. 2006 Dec;38(12):1372-4. Epub 2006 Oct 29.
 
Hereditary pancreatitis has been reported to be caused by 'gain-of-function' missense mutations in the cationic trypsinogen gene (PRSS1). Here we report the triplication of a approximately 605-kb segment containing the PRSS1 gene on chromosome 7 in five families with hereditary pancreatitis. This triplication, which seems to result in a gain of trypsin through a gene dosage effect, represents a previously unknown molecular mechanism causing hereditary pancreatitis.
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Institut National de la Santéet de la Recherche Médicale (INSERM), U613, 29220 Brest, France.
PMID