A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13.

Thomassen, Mads

A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13. [electronic resource] - Genetic testing 2006 - 116-20 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1090-6576

10.1089/gte.2006.10.116 doi


Adult
Alternative Splicing
Breast Neoplasms--genetics
DNA Mutational Analysis
Exons
Female
Gene Expression Profiling
Genes, BRCA2
Genetic Carrier Screening
Humans
Male
Mutation, Missense
Pedigree
Reverse Transcriptase Polymerase Chain Reaction