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Mutation analysis of theSHFM1gene in breast/ovarian cancer families

✍ Scribed by Sandra Bonache, Miguel de la Hoya…


Book ID
120908857
Publisher
Springer-Verlag
Year
2013
Tongue
English
Weight
180 KB
Volume
139
Category
Article
ISSN
1432-1335

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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