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Three novel APC gene mutations in portuguese FAP kindreds

✍ Scribed by Brendan Marshall; Gloria Isidro; Raquel Carvalhas; Isabel Veiga; Sergio Castedo; Jose Soares; Maria Guida Boavida

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 225 KB
Volume: 8
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1996)8:4<395::aid-humu23>3.0.co;2-x

No coin nor oath required. For personal study only.

✦ Synopsis

MUTATION NOTES 395

in TCT, which would cause a frameshift from codon 642 ( C l T a A T T + CXTGATT). This frameshift mutation would generate a stop codon immediately downstream to produce a truncated hMLHl protein. This is the first report of a somatic mutation in DNA mismatch repair genes found in a sporadic form of endometrial cancer.

Acknowledgements

Foundation, Takeda Science Foundation, and the Ichiro Kanehara Foundation.

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