Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 3 of 3 for “"MYBPC3"”.
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Haploinsufficiency of Cardiac Myosin Binding Protein-C in the Development of Hypertrophic Cardiomyopathy
… established as causative for HCM.</p><p>The gene MYBPC3, encoding cardiac myosin binding protein-C (cMyBP-C), is the second most commonly mutated gene in HCM cases. As a majority of these mutations have been determined to result in a null allele which does not produce any protein, it is thought …
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Miocardiopatía hipertrófica: Identificación de nuevos genes mediante técnicas de secuenciación masiva
… y de la proteína C de unión a la beta miosina (MYBPC3). Entre las dos son responsables de aproximadamente el 50% de los casos de MCH en los que se han hallado mutaciones causales. Sin embargo, en un 30-60% de los casos la variante genética causal no es identificada, por lo que deben existir …
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Targeted re-sequencing of a large South African cardiomyopathy cohort
… cohort was 23.3% (14/60), with MYH7 (40%) and MYBPC3 (27%) found to be the predominant genes. The adult RCM cohort constituted 7.2% (43/594) of the IMHOTEP study probands, with a mean age of 33.0 years at diagnosis and a 65% female preponderance. The dominant populations recruited were 81% …