Mutations of p53 were detected by direct sequencing in patients: AS (top), EW (middle), and JG (bottom). A cgg→tgg transition occurred in codon 248, resulting in Arg→Trp substitution in patient AS. A agg→tgg transversion occurred in codon 249, resulting in a Arg→Trp substitution in patient EW. A cgt→cat transition occurred in codon 273, resulting in a Arg→His substitution in patient JG.