Computational protocol: Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

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Protocol publication

[…] To sequence coding exons in the ahl5 interval, genomic sequences were obtained from http://genome.ucsc.edu and PCR primers flanking the exons were designed using Primer3 http://Frodo.wi.mit.edu. Exons were amplified and cycle sequencing was performed as described above. Sequence chromatograms were analysed using Sequencher v4.5 (Gene Code Corporation). BLSW DNA sequences were compared against the C57BL/6J reference sequence. Presence of the Gipc3343G>A mutation was evaluated by DNA sequencing. […]

Pipeline specifications

Software tools Primer3, Sequencher
Application qPCR
Organisms Mus musculus, Homo sapiens
Diseases Genetic Diseases, Inborn, Ganglion Cysts
Chemicals Potassium