Article
p53 germline mutations in Li-Fraumeni syndrome.
Lancet (London, England) - 14 Dec 1991
Santibáñez-Koref M F, Birch J M, Hartley A L, Jones P H, Craft A W, Eden T, Crowther D, Kelsey A M, Harris M
Abstract excerpt
Germline mutations within a defined region of the p53 gene have recently been found in families with the Li-Fraumeni syndrome (LFS). In the present study this region of p53 was sequenced in affected individuals from 8 families with LFS. In only 2 of them were such mutations detected. Our findings suggest that the p53 mutation could be the primary lesion in some but not all families with LFS, and confirm that...
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