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- W2012593322 abstract "Background: Juvenile polyposis syndrome is an inherited condition associated with the development of gastrointestinal polyps and subsequent cancer. An efficient denaturing high-performance liquid chromatography (DHPLC) screening method has been developed to detect mutations in SMAD4, which account for around 20% of reported cases. Methods: The nucleotide sequences of polymerase chain reaction (PCR)amplified SMAD4 exons were examined using WAVEMAKER TM software to determine suitable DHPLC conditions. Multiple wild-type controls were characterized by DHPLC, and known mutations analysed where available. Results: DHPLC elution profiles for wild-type and variant SMAD4 alleles were successfully characterized across a range of column oven temperatures. Conclusions: DHPLC analysis of SMAD4 has been refined to an efficient screening protocol that uses the minimal number of column oven temperatures for reliable mutation detection." @default.
- W2012593322 created "2016-06-24" @default.
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- W2012593322 date "2007-03-01" @default.
- W2012593322 modified "2023-09-24" @default.
- W2012593322 title "Development of a denaturing high-performance liquid chromatography screening method for SMAD4 in juvenile polyposis syndrome" @default.
- W2012593322 doi "https://doi.org/10.1258/000456307780118181" @default.
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