Mutational analysis of p53 by direct sequencing in SLVL.

Sequencing was performed in 9 patients with p53 deletion or protein expression or both. p53 mutations were identified in 2 patients. (A) A point missense transition mutation in codon 273 in patient J changing CGT (Arg) to CAT (His), heterozygous (*) at diagnosis, which became homozygous (**) 2 years later. (B) A heterozygous 6-bp deletion (2 entire codons: 262-263), leading to a protein lacking 2 amino acids (Gly-Asn), at the beginning of exon 8 in patient L.