Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness - Baig, Shahid M; Koschak, Alexandra; Lieb, Andreas; Gebhart, Mathias; Dafinger, Claudia; Nürnberg, Gudrun; Ali, Amjad; Ahmad, Ilyas; Sinnegger-Brauns, Martina J; Brandt, Niels; Engel, Jutta; Mangoni, Matteo E; et al. (Nature neuroscience, 2011)
Keywords: Adolescent; Adult; Bradycardia - genetics; Bradycardia - physiopathology; Calcium Channels, L-Type - genetics; Calcium Channels, L-Type - physiology; Channelopathies - genetics; Channelopathies - physiopathology; Deafness - congenital; Deafness - genetics; Deafness - physiopathology; Female; Hair Cells, Auditory, Inner - physiology; Haplotypes; HEK293 Cells; Humans; Male; Mutation; Pedigree; Protein Isoforms - genetics; Protein Isoforms - physiology; Sinoatrial Node - physiology; Syndrome; Transfection - methods