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Patient with a PRKAG2 mutation who developed Immunoglobulin A nephropathy: a case report
BACKGROUND: PRKAG2 syndrome (PS) is a rare, early-onset autosomal dominant inherited disease caused by mutations in PRKAG2, the gene encoding the regulatory γ2 subunit of adenosine monophosphate-activated protein kinase. PRKAG2 syndrome is associated with many cardiac manifestations, including pre-e...
Autores principales: | Giudici, Michael C, Ahmad, Ferhaan, Holanda, Danniele G |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601182/ https://www.ncbi.nlm.nih.gov/pubmed/31449595 http://dx.doi.org/10.1093/ehjcr/ytz038 |
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