𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Current Protocols in Human Genetics || p53 Testing for Li-Fraumeni and Li-Fraumeni-Like Syndromes

✍ Scribed by Dracopoli, Nicholas C.; Haines, Jonathan L.; Korf, Bruce R.; Morton, Cynthia C.; Seidman, Christine E.; Seidman, J.G.; Smith, Douglas R.

Book ID
121017022
Publisher
John Wiley & Sons, Inc.
Year
2008
Tongue
English
Weight
118 KB
Category
Article
ISBN-13
9780471142904

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

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