Article
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
Human mutation - 1 Jul 2011
Schmid Fabian, Glaus Esther, Barthelmes Daniel, Fliegauf Manfred, Gaspar Harald, Nürnberg Gudrun, Nürnberg Peter, Omran Heymut, Berger Wolfgang, Neidhardt John
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a multisystem disorder caused by ciliary defects. To date, mutations in 15 genes have been associated with the disease and BBS1 is most frequently affected in patients with BBS. The use of homozygosity mapping in a large consanguineous family allowed us to identify the splice donor site (SD) mutation c.479G>A in exon 5 of BBS1. Clinically affected family members show symptoms of...
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