Mutation profile in the β-myosin heavy chain gene in hypertensive hypertrophic heart disease
✍ Scribed by C.P. Clifford; D.J.R. Nunez
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 14 KB
- Volume
- 14
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
7505, Repubk of South Africa (P. A. B.) Communicated by Robert Willramson
Familial hypertrophic cardiomyopathy is a genetically heterogeneous disease in which one of the most frequently implicated gene is the gene encoding the b-myosin heavy chain. To date, more than 40 distinct mutations have been found within this gene. In order to progress on the determination of genot
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
A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac ß-myosin heavy chain gene causing