@article{c60ed55159ce4604b8616c57c4b69665,
title = "A missense mutation in exon 13 in BRCA2, c.7235G>A, results in skipping of exon 13",
abstract = "We report here the functional characterisation of a missense mutation c.7235G>A in BRCA2. By reverse transcriptase polymerase chain reaction the mutation is demonstrated to cause skipping of exon 13. We conclude that the mutation is most likely deleterious.",
keywords = "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",
author = "Mads Thomassen and Kruse, {Torben A} and Jensen, {Peter K A} and Anne-Marie Gerdes",
year = "2006",
doi = "10.1089/gte.2006.10.116",
language = "English",
volume = "10",
pages = "116--20",
journal = "Genetic Testing",
issn = "1090-6576",
publisher = "Mary Ann Liebert Inc.",
number = "2",
}