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Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

We report a family with the Li-Fraumeni syndrome (LFS) in whom we have been unable to detect a mutation in the coding sequence of the p53 gene. Analysis of linkage to three polymorphic markers within p53 enabled direct involvement of p53 to be excluded. This is the first example of a LFS family in w...

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Autori principali: Birch, J. M., Heighway, J., Teare, M. D., Kelsey, A. M., Hartley, A. L., Tricker, K. J., Crowther, D., Lane, D. P., Santibáñez-Koref, M. F.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 1994
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2033684/
https://ncbi.nlm.nih.gov/pubmed/7981072
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