A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

A novel CACNA1C mutation identified in a patient with Timothy syndrome without syndactyly exerts both marked loss- and gain-of-function effects

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: HeartRhythm Case Reports - Volume 4, Issue 7, July 2018, Pages 273-277

Junichi MD, PhD, Seiko MD, PhD, Hideki MD, Akihiko MD, PhD, Hiroshi MD, PhD, Minoru MD, PhD,