Second MAFA Variant Causing a Phosphorylation Defect in the Transactivation Domain and Familial Insulinomatosis

SIMPLE SUMMARY: Adult-onset familial insulinomatosis is a rare disorder with recurrent, severe hypoglycemia caused by multiple insulin-secreting pancreatic tumors. The etiology was unclear until the genetic variant p.Ser64Phe in the MAFA protein, a key coordinator of insulin secretion in pancreatic...

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Detalles Bibliográficos
Autores principales: Fottner, Christian, Sollfrank, Stefanie, Ghiasi, Mursal, Adenaeuer, Anke, Musholt, Thomas, Schad, Arno, Miederer, Matthias, Schadmand-Fischer, Simin, Weber, Matthias M., Lackner, Karl J., Rossmann, Heidi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8997416/
https://www.ncbi.nlm.nih.gov/pubmed/35406570
http://dx.doi.org/10.3390/cancers14071798

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