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Allelic Imbalance and Haploinsufficiency in MYBPC3-linked Hypertrophic Cardiomyopathy
Mutations in cardiac myosin binding protein C (MYBPC3) represent the most frequent cause of familial hypertrophic cardiomyopathy (HCM), making up approximately 50% of identified HCM mutations[4]. MYBPC3 is distinct among other sarcomere genes associated with HCM in that truncating mutations make up...
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| Vydáno v: | Pflugers Arch |
|---|---|
| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2018
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6476680/ https://ncbi.nlm.nih.gov/pubmed/30456444 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00424-018-2226-9 |
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