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Mutation analysis of theAATFgene in breast cancer families

✍ Scribed by Maria Haanpää; Mervi Reiman; Jenni Nikkilä; Hannele Erkko; Katri Pylkäs; Robert Winqvist


Book ID
115011786
Publisher
BioMed Central
Year
2009
Tongue
English
Weight
209 KB
Volume
9
Category
Article
ISSN
1471-2407

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BRCA1 mutation analysis in 83 Spanish br
✍ Orland Díez; Joan Cortés; Montserrat Domènech; Joan Brunet; Elisabeth Del Río; C 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 French ⚖ 142 KB 👁 2 views

A group of 83 Spanish BC/OC families were analysed for BRCA1 germ-line mutations. Analysis of the entire coding sequence was carried out by SSCP and PTT. We identified 5 frameshift mutations: 185delAG (2 times), 189insTGTC, 1241delAC, and 5537delA and 3 missense mutations in BRCA1: 330A G G, 1240C G