The role of functionally defective rare germline variants of sialic acid acetylesterase in autoimmune Addison's disease

BACKGROUND: Autoimmune Addison's disease (AAD) is a rare condition with a complex genetic basis. A panel of rare and functionally defective genetic variants in the sialic acid acetylesterase (SIAE) gene has recently been implicated in several common autoimmune conditions. We performed a case–co...

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Detalles Bibliográficos
Autores principales: Gan, Earn H, MacArthur, Katie, Mitchell, Anna L, Pearce, Simon H S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioScientifica 2012
Materias:
Clinical Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3494867/
https://www.ncbi.nlm.nih.gov/pubmed/23011869
http://dx.doi.org/10.1530/EJE-12-0579

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