Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness.

Baig, Shahid M

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. [electronic resource] - Nature neuroscience Jan 2011 - 77-84 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1546-1726

10.1038/nn.2694 doi


Adolescent
Adult
Bradycardia--genetics
Calcium Channels, L-Type--genetics
Channelopathies--genetics
Deafness--congenital
Female
HEK293 Cells
Hair Cells, Auditory, Inner--physiology
Haplotypes
Humans
Male
Mutation
Pedigree
Protein Isoforms--genetics
Sinoatrial Node--physiology
Syndrome
Transfection--methods