The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy

AIMS: Mutations in the cardiac myosin-binding protein C gene (MYBPC3) are the most common genetic cause of hypertrophic cardiomyopathy (HCM) worldwide. The molecular mechanisms leading to HCM are poorly understood. We investigated the metabolic profiles of mutation carriers with the HCM-causing MYBP...

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Pubblicato in:PLoS One
Autori principali: Jørgenrud, Benedicte, Jalanko, Mikko, Heliö, Tiina, Jääskeläinen, Pertti, Laine, Mika, Hilvo, Mika, Nieminen, Markku S., Laakso, Markku, Hyötyläinen, Tuulia, Orešič, Matej, Kuusisto, Johanna
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2015
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4534205/
https://ncbi.nlm.nih.gov/pubmed/26267065
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0134184
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