Differentiating pathogenic mutations from polymorphic alterations in the splice sites ofBRCA1 andBRCA2
Author:
Publisher
Wiley
Subject
Cancer Research,Genetics
Reference23 articles.
1. Mutation analysis of the BRCA1 and BRCA2 genes results in the identification of novel and recurrent mutations in 6/16 Flemish families with breast and/or ovarian cancer but not in 12 sporadic patients with early-onset disease
2. Pathological splice mutations outside the invariant AG/GT splice sites of BRCA1 exon 5 increase alternative transcript levels in the 5′ end of the BRCA1 gene
3. Genetic Counselling and Testing for Hereditary Breast and Ovarian Cancer: The Gent(le) Approach
4. A novel mutation in the neurofibromatosis type 1 (NF1) gene promotes skipping of two exons by preventing exon definition11Edited by M. Yaniv
5. PRE-mRNA SPLICING
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