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A novel mutation at the splice junction of exon 9 of the APC gene in familial adenomatous polyposis

✍ Scribed by Alessandro Cama; Diana L. Esposito; Raffaele Palmirotta; Maria Cristina Curia; Annalisa Ranieri; Ferdinando Ficari; Rosa Valanzano; Andrea Modesti; Pasquale Battista; Francesco Tonelli; Renato Mariani-Costantini


Publisher
John Wiley and Sons
Year
1994
Tongue
English
Weight
441 KB
Volume
3
Category
Article
ISSN
1059-7794

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Patients with Familial Adenomatous Polyposis (FAP) manifest numerous colorectal adenomas as well as benign and malignant extra-colonic lesions. Adenomatous polyposis coli (APC) gene mutations are the underlying genetic defect in FAP. We analyzed germline D N A of 81 unrelated FAP patients and evalua