![]() ![]() ![]() Here we demonstrate a heterozygous hybrid PRSS2 (encoding anionic trypsinogen)/ PRSS1 gene in a French white family with hereditary pancreatitis, by means of quantitative fluorescent multiplex PCR and RT-PCR analyses. Hereditary pancreatitis, an autosomal dominant disease with ∼80% penetrance, can be caused by both ‘gain-of-function’ missense and copy number mutations in the cationic trypsinogen gene ( PRSS1 ). Masson, Emmanuelle Le Maréchal, Cédric Delcenserie, Richard Chen, Jian-Min Férec, Claude Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation
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