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Novel p53 splicing site mutation in Li-Fraumeni-like syndrome with osteosarcoma

✍ Scribed by Sakurai, Naoto; Iwamoto, Shotaro; Miura, Yoshihiro; Nakamura, Tomoki; Matsumine, Akihiko; Nishioka, Junji; Nakatani, Kaname; Komada, Yoshihiro

Book ID
118750718
Publisher
John Wiley and Sons
Year
2013
Tongue
English
Weight
759 KB
Volume
55
Category
Article
ISSN
1328-8067

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Li–Fraumeni and Li–Fraumeni-like syndrom
Li–Fraumeni and Li–Fraumeni-like syndrome mutations in p53 are associated with exonic methylation and splicing regulatory elements
✍ 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