Article
A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9.
Human mutation - 1 Jan 1998
Young J, Simms L A, Tarish J, Buttenshaw R, Knight N, Anderson G J, Bell A, Leggett B
Abstract excerpt
A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affecte...
Topics
- Adenomatous Polyposis Coli
- Adult
- Aged
- Alternative Splicing
- Amino Acid Sequence
- Base Sequence
- DNA, Complementary
- Exons
- Female
- Genetic Linkage
- Humans
- Male
- Middle Aged
- Mutation
- Nucleic Acid Heteroduplexes
- Pedigree
- Phenotype