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Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

โœ Scribed by Andrew P. Landstrom; Michelle S. Parvatiyar; Jose R. Pinto; Michelle L. Marquardt; J. Martijn Bos; David J. Tester; Steve R. Ommen; James D. Potter; Michael J. Ackerman


Book ID
116985703
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
588 KB
Volume
45
Category
Article
ISSN
0022-2828

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Molecular and functional characterizatio
โœ MG Pittis; M Donnarumma; ALE Montalvo; S Dominissini; M Kroos; C Rosano; M Strop ๐Ÿ“‚ Article ๐Ÿ“… 2008 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 216 KB

We characterized 29 unrelated patients presenting with the severe form of Pompe disease (Glycogen Storage Disease Type II, acid maltase deficiency) and identified 26 pathogenic mutations divided over 28 different genotypes. Among the eight new mutations, five were exonic point mutations (c.572A>G, c