Article
Germ-line exclusion of a single p53 allele by premature termination of translation in a Li-Fraumeni syndrome family.
Oncogene - 1 Oct 1994
Stolzenberg M C, Brugières L, Gardes M, Dessarps-Freichey F, Chompret A, Bressac B, Lenoir G, Bonaïti-Pellié C, Lemerle J, Feunteun J
Abstract excerpt
Germline p53 mutations have been detected in approximately half of the families affected by the Li-Fraumeni syndrome (LFS), in which they are believed to represent the genetic status predisposing to multiple cancers. Failure to detect mutations in the other half of LFS families suggests that sequ...
Topics
- Alleles
- Base Sequence
- Female
- Genes, p53
- Germ-Line Mutation
- Humans
- Li-Fraumeni Syndrome
- Male
- Molecular Sequence Data
- Pedigree
- Protein Biosynthesis
- RNA Splicing
- RNA, Messenger
- Tumor Cells, Cultured