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Novel p53 splice site mutations in three families with Li-Fraumeni syndrome

✍ Scribed by Verselis, Sigitas J; Rheinwald, James G; Fraumeni, Joseph F; Li, Frederick P


Book ID
110064078
Publisher
Nature Publishing Group
Year
2000
Tongue
English
Weight
146 KB
Volume
19
Category
Article
ISSN
0950-9232

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Li–Fraumeni and Li–Fraumeni-like syndrom
✍ Sofia Kouidou; Andigoni Malousi; Nicos Maglaveras 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 265 KB

## Abstract Mutations in codon 133 of __p53__, which cause the loss of the Δ133 isoform(s) expression, are very frequent in the Li–Fraumeni (LF) and Li–Fraumeni‐like (LFL) syndromes. In sporadic cancers, silent __p53__ mutations are correlated with exonic splicing enhancers (ESEs) and exonic methyl