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An Alu-Mediated 6-kb Duplication in the BRCA1 Gene: A New Founder Mutation?

✍ Scribed by Nadine Puget; Olga M. Sinilnikova; Dominique Stoppa-Lyonnet; Carole Audoynaud; Sabine Pagès; Henry T. Lynch; David Goldgar; Gilbert M. Lenoir; Sylvie Mazoyer


Book ID
117852684
Publisher
American Society of Human Genetics
Year
1999
Tongue
English
Weight
169 KB
Volume
64
Category
Article
ISSN
0002-9297

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A large deletion mutation in the CFTR ge
✍ Israela Lerer; Ayala Laufer-Cahana; Jacob R. Rivlin; Arie Augarten; Dvorah Abeli 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB

A deletion mutation of 8.6Kb in the CFTR gene, spanning the exons 17a, 17b and 18 was identified in 4 homozygous unrelated Palestinian CF patients. The patients were of various ethnic subgroups including Muslims, Christians and Druze. The deletion breakpoint occurred within an identical 4bp sequence