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p53 in the Clinics || Genetic Counseling for TP53 Germline Mutations

✍ Scribed by Hainaut, Pierre; Olivier, Magali; Wiman, Klas G.


Book ID
120366051
Publisher
Springer New York
Year
2012
Weight
319 KB
Category
Article
ISBN
1461436761

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Three germline mutations in the TP53 gen
✍ RS Cornelis; M van Vliet; MJ van de Vijver; HFA Vasen; PA Voute; B Top; P. Meera πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 170 KB πŸ‘ 2 views

Three germline mutations in the TP53 tumor-suppressor gene are reported, two of which are not reported previously. A missense mutation at codon 265 of TP53 was found in three patients of a family that complied with the definition of the Li-Fraumeni syndrome. A nonsense mutation in codon 306 was foun