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- W2079014026 abstract "In the present study, the polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) technique has been applied to the mutation analysis of the adenomatous polyposis coli (APC) gene. We examined the first 14 exons of the APC gene in 46 polyposis coli patients. Five germline mutations were observed, including a single-nucleotide substitution and small (1–4 bp) deletions leading, in 4 cases, to a stop codon. A missense mutation in exon 3 and a 1 bp deletion in exon 4 of the APC gene were observed in patients presenting with the attenuated form of FAP." @default.
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- W2079014026 date "1994-01-01" @default.
- W2079014026 modified "2023-10-16" @default.
- W2079014026 title "Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene" @default.
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- W2079014026 doi "https://doi.org/10.1016/0959-8049(94)00294-f" @default.
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