A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia in Bedouin Families from Israel

Catecholamine-induced polymorphic ventricular tachycardia (PVT) is characterized by episodes of syncope, seizures, or sudden death, in response to physical activity or emotional stress. Two modes of inheritance have been described: autosomal dominant and autosomal recessive. Mutations in the ryanodi...

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Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Lahat, Hadas, Pras, Elon, Olender, Tsviya, Avidan, Nili, Ben-Asher, Edna, Man, Orna, Levy-Nissenbaum, Etgar, Khoury, Asad, Lorber, Avraham, Goldman, Boleslaw, Lancet, Doron, Eldar, Michael
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: The American Society of Human Genetics 2001
Gaiak:
Report
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC1235548/
https://ncbi.nlm.nih.gov/pubmed/11704930
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