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SUN-155 A Complex Case of Adrenal Insufficiency Associated with NLRP1 Gene Mutation in a Patient with Myopathy and Mitochondrial Cytopathy

Most cases of Addison’s disease are due to an autoimmune response, with the most commonly associated genes belonging to human leukocyte antigen (HLA) complex. Genome wide association studies have shown a significant association of variants of Nuclear Localization Leucine-Rich-Repeat Protein 1 (NLRP1...

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Detalles Bibliográficos
Autores principales:	Khan, Mehvish, Khawaja, Masuma, Haq, Mohammad Adnan Ul, Quadir, Humza, Jameson, Brian C
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2020
Materias:	Adrenal
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7207498/ http://dx.doi.org/10.1210/jendso/bvaa046.1821

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