Article
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis.
Molecular genetics and metabolism - 1 Jan 2000
Masson Emmanuelle, Le Maréchal Cédric, Levy Philippe, Chuzhanova Nadia, Ruszniewski Philippe, Cooper David N, Chen Jian-Min, Férec Claude
Abstract excerpt
Quantitative fluorescent multiplex PCR (QFM-PCR) was established in order to make possible the rapid and efficient mutational analysis of the pancreatic secretory trypsin inhibitor (SPINK1) gene. Using QFM-PCR, a novel heterozygous deletion encompassing the entire SPINK1 gene was identified in one of nine newly recruited French Caucasian families with chronic pancreatitis. The breakpoints were fully characterized...
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