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Novel PRKAG2 variant presenting as liver cirrhosis: report of a family with 2 cases and review of literature
BACKGROUND: Mutations in the PRKAG2 gene encoding the 5′ Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically in its γ2 regulatory subunit, lead to Glycogen storage disease of heart, fetal congenital disorder (PRKAG2 syndrome). These mutations are rare, and their functional roles ha...
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| Publicado no: | BMC Med Genomics |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7845137/ https://ncbi.nlm.nih.gov/pubmed/33509202 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-00879-1 |
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