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

Genetic testing ·Vol. 10 ·No. 2 ·2006-09-01

Thomassen Mads, Kruse Torben A, Jensen Peter K A, Gerdes Anne-Marie

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.

Article Info

Journal

Genetic testing

Abbr.

Genet Test

ISSN

1090-6576

DOI

10.1089/gte.2006.10.116

Published

2006-09-01

Indexed

2006-06-23

Updated

2006-11-15

Language

English

Country/Region

United States

NLM ID

9802546

External Links

PubMed source DOI: 10.1089/gte.2006.10.116

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

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