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Genetic analyses in familial isolated hyperparathyroidism: implication for clinical assessment and surgical management

✍ Scribed by Filomena Cetani; Elena Pardi; Elena Ambrogini; Monica Lemmi; Simona Borsari; Luisella Cianferotti; Edda Vignali; Paolo Viacava; Piero Berti; Stefano Mariotti; Aldo Pinchera; Claudio Marcocci


Book ID
108703339
Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
169 KB
Volume
64
Category
Article
ISSN
0300-0664

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Functional analysis reveals splicing mut
✍ Nathalie Roux-Buisson; John Rendu; Isabelle Denjoy; Pascale Guicheney; Alice Gol πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 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