Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.

@article{Dobbie1996CorrelationBT,
  title={Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene.},
  author={Zuzana Dobbie and Martina Spycher and John S VPNP VBZ loves NP Mary and Markus Haener and Irene Guldenschuh and R H{\"u}rliman and R Amman and Jennifer Roth and Hj Mueller and Rod J. Scott},
  journal={Journal of medical genetics},
  year={1996},
  volume={33 4},
  pages={274-80}
}
The APC gene was investigated in 31 unrelated polyposis coli families by SSCP analysis and the protein truncation test. Twenty-three germline mutations were identified which gave rise to a variety of different phenotypes. Some of these mutations have already been described; however we report six previously unpublished mutations. Typical disease symptoms were observed in families who harboured mutations between exon 4 (codon 169) and codon 1393 of exon 15. Mutations beyond codon 1403 were… CONTINUE READING

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