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Cardiac myosin binding protein–C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

✍ Scribed by Bonne, Gisèle; Carrier, Lucie; Bercovici, Josiane; Cruaud, Corinne; Richard, Pascale; Hainque, Bernard; Gautel, Mathias; Labeit, Siegfried; James, Michael; Beckmann, Jacques


Book ID
109918891
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
522 KB
Volume
11
Category
Article
ISSN
1061-4036

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Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiac disease. Fourteen sarcomeric and sarcomere-related genes have been implicated in HCM etiology, those encoding β-myosin heavy chain (__MYH7__) and cardiac myosin binding protein C (__MYBPC3__) reported as the most frequently mutated