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Analysis of masked mutations in familial adenomatous polyposis

Familial adenomatous polyposis (FAP) is an autosomal-dominant disease characterized by the development of hundreds of adenomatous polyps of the colorectum. Approximately 80% of FAP patients can be shown to have truncating mutations of the APC gene. To determine the cause of FAP in the other 20% of p...

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Bibliografiset tiedot
Päätekijät: Laken, Steven J., Papadopoulos, Nickolas, Petersen, Gloria M., Gruber, Stephen B., Hamilton, Stanley R., Giardiello, Francis M., Brensinger, Jill D., Vogelstein, Bert, Kinzler, Kenneth W.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: The National Academy of Sciences 1999
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC26782/
https://ncbi.nlm.nih.gov/pubmed/10051640
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