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A novel P53 germline mutation associated with a familial brain tumour syndrome

✍ Scribed by Lübbe, J.; Von Ammon, K.; Kleihues, P.

Book ID
122690617
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
187 KB
Volume
30
Category
Article
ISSN
0959-8049

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Functional analyses of a unique p53 germ
Functional analyses of a unique p53 germline mutant (y236Δ) associated with a familial brain tumor syndrome
✍ Patrick Chène; Katherine Ory; Daniela Rüedi; Thierry Soussi; Monika E. Hegi 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 French ⚖ 112 KB

We have evaluated the functional properties of the unique p53 mutant Y236⌬ (deletion of codon 236) that gave rise to apparent cell-type specific tumor development. Four family members carrying this mutation in the germline developed early onset brain tumors, as previously reported. Deletion of resid