## Abstract In 10–30% of patients with classical familial adenomatous polyposis (FAP) and up to 90% of those with attenuated (<100 colorectal adenomas; AFAP) polyposis, no pathogenic germline mutation in the adenomatous polyposis coli (__APC__) gene can be identified (__APC__ mutation‐negative). Re
Mutation analysis of the MYH gene in unrelated Czech APC mutation-negative polyposis patients
✍ Scribed by M. Šulová; K. Zı´dková; Z. Kleibl; J. Štekrová; V. Kebrdlová; M. Bortlı´k; M. Lukáš; M. Kohoutová
- Book ID
- 116429330
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 146 KB
- Volume
- 43
- Category
- Article
- ISSN
- 0959-8049
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## Abstract The __MYH__ gene has recently been shown to be associated with a recessive form of colorectal adenomatous polyposis. Two common mutations in the __MYH__ gene have been identified that lend themselves to rapid screening. We have examined a series of 302 individuals comprising 120 control
## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm