Article
Prevalence and diversity of constitutional mutations in the p53 gene among 21 Li-Fraumeni families.
Cancer research - 1 Mar 1994
Birch J M, Hartley A L, Tricker K J, Prosser J, Condie A, Kelsey A M, Harris M, Jones P H, Binchy A, Crowther D
Abstract excerpt
The entire coding sequence of the p53 gene was analysed for the presence of mutations in 12 families conforming to a restricted definition of Li-Fraumeni syndrome (classic LFS) and nine families with features of LFS conforming to a broader definition. Mutations were detected in seven families. Six were point mutations with one each affecting codons 175, 180, and 220 and three affecting codon 248. The seventh was...
Topics
- Base Sequence
- Child
- Codon
- Exons
- Family Health
- Female
- Genes, p53
- Humans
- Li-Fraumeni Syndrome
- Male
- Middle Aged
- Molecular Sequence Data