Article
Functional studies of a germ-line polymorphism at codon 47 within the p53 gene.
American journal of human genetics - 1 Sept 1993
Felley-Bosco E, Weston A, Cawley H M, Bennett W P, Harris C C
Abstract excerpt
A rare germ-line polymorphism in codon 47 of the p53 gene replaces the wild-type proline (CCG) with a serine (TCG). Restriction analysis of 101 human samples revealed the frequency of the rare allele to be 0% (n = 69) in Caucasians and 4.7% (3/64, n = 32) among African-Americans. To investigate the consequence of this amino acid substitution, a cDNA construct (p53 mut47ser) containing the mutation was introduced...
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