Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia

Functional analysis reveals splicing mut

Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management

✍ Nathalie Roux-Buisson; John Rendu; Isabelle Denjoy; Pascale Guicheney; Alice Gol 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 179 KB

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in the CASQ2 gene have been reported so far in association with CPVT. We