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Heterogeneity in Li-Fraumeni families: p53 mutation analysis and immunohistochemical staining.

We have screened two families for constitutional TP53 mutations, one family with Li-Fraumeni syndrome and the other with features of this syndrome. We report a germline mutation in exon 7 of the TP53 gene in the family with "Li-Fraumeni-like" syndrome. The mutation occurred at codon 245 an...

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Autors principals: MacGeoch, C, Turner, G, Bobrow, L G, Barnes, D M, Bishop, D T, Spurr, N K
Format: Artigo
Idioma:Inglês
Publicat: 1995
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050314/
https://ncbi.nlm.nih.gov/pubmed/7783166
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