Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

SA, Gayther; D, Wells; SB, SenGupta; P, Chapman; K, Neale; K, Tsioupra; JD, Delhanty

doi:10.1093/hmg/3.1.53

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Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

Shared by NobleBlocks on Jan 1, 1994 • 12:00 AM UTC

Authors:

Gayther SA

Wells D

SenGupta SB

Abstract

Germline mutation in APC at 5q21-22 results in the dominantly inherited syndrome adenomatous polyposis coli (APC). Somatic mutation in this gene is an early event in colorectal tumourigenesis. Both types of mutation are concentrated in the 5' half of exon 15. We have used single strand conformationa...

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