Article
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.
Journal of medical genetics - 1 Mar 1999
Férec C, Raguénès O, Salomon R, Roche C, Bernard J P, Guillot M, Quéré I, Faure C, Mercier B, Audrézet M P, Guillausseau P J, Dupont C, Munnich A, Bignon J D, Le Bodic L
Abstract excerpt
Hereditary pancreatitis (HP) is a rare inherited disorder, characterised by recurrent episodes of pancreatitis often beginning in early childhood. The mode of inheritance suggests an autosomal dominant trait with incomplete penetrance. The gene, or at least one of the genes, responsible for hereditary pancreatitis has been mapped to the long arm of chromosome 7 and a missense mutation, an arginine to histidine...
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