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 affected members. Heteroduplex analysis detected bands of altered mobility in exon 9 of the APC gene in all affected family...
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