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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...

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Detalles Bibliográficos
Autores principales: Giudici, Michael C, Ahmad, Ferhaan, Holanda, Danniele G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
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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