Detection and identification of mutations in the APC gene in portuguese fap families using the protein truncation test and SSCP
β Scribed by B. Marshall; G. Isidro; R. Carvalhas; I. Veiga; J.S. Ramos; L. Viana; G. Santos; S. Castedo; M.G. Boavida
- Book ID
- 114136456
- Publisher
- Elsevier Science
- Year
- 1996
- Tongue
- English
- Weight
- 87 KB
- Volume
- 91
- Category
- Article
- ISSN
- 0165-4608
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π SIMILAR VOLUMES
About 80% of the mutations identified to date in the Adenomatous Polyposis Coli (APC) gene have been found in the 5' half of the coding sequence, the vast majority of which (>95%) are nonsense or frameshift mutations that result in the loss of the carboxyl terminus of APC protein. Using a stop codon
Paalman Familial adenomatous polyposis (FAP), an autosomal dominantly inherited condition accounting for about 1% of all colorectal cancers, results from mutations in the adenomatous polyposis coli (APC) tumor suppressor gene. The clinical spectrum and severity of FAP varies greatly with the mutatio