Frequent normal allele loss and maternal origin of the mutation shown by DNA homoduplex analysis in a severely affected patient with adenomatous polyposis coli.

doi:10.1111/j.1469-1809.1994.tb01880.x

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Article

Frequent normal allele loss and maternal origin of the mutation shown by DNA homoduplex analysis in a severely affected patient with adenomatous polyposis coli.

Annals of human genetics - 1 May 1994

Gayther S A, Rees M, Delhanty J D

Abstract excerpt

An atypically high frequency of loss of heterozygosity at chromosome 5q22 in small adenomas from a severely affected new mutation patient with adenomatous polyposis coli was recently reported. DNA homoduplex analysis has now been used to show that the deletion in the adenomas extends to include t...

Topics

Adenomatous Polyposis Coli
Alleles
Female
Gene Deletion
Genes, APC
Humans
Mutation
Nucleic Acid Conformation
Pedigree

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