The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency

Mutations in MYBPC3, the gene encoding cardiac myosin binding protein C (cMyBP-C), are a major cause of hypertrophic cardiomyopathy (HCM). While most mutations encode premature stop codons, missense mutations causing single amino acid substitutions are also common. Here we investigated effects of a...

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Bibliographic Details
Published in:Arch Biochem Biophys
Main Authors: van Dijk, Sabine J., Kooiker, Kristina Bezold, Mazzalupo, Stacy, Yang, Yuanzhang, Kostyukova, Alla S., Mustacich, Debbie J., Hoye, Elaine R., Stern, Joshua A., Kittleson, Mark D., Harris, Samantha P.
Format: Artigo
Language:Inglês
Published: 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5843467/
https://ncbi.nlm.nih.gov/pubmed/26777460
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.abb.2016.01.006
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