Spectrum of germline AIRE mutations causing APS-1 and familial hypoparathyroidism

OBJECTIVE: The autoimmune polyendocrine syndrome type 1 (APS-1) is an autosomal recessive disorder characterised by immune dysregulation and autoimmune endocrine gland destruction. APS-1 is caused by biallelic mutations affecting the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which faci...

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Detalles Bibliográficos
Autores principales: Cranston, Treena, Boon, Hannah, Olesen, Mie K, Ryan, Fiona J, Shears, Deborah, London, Rosemary, Rostom, Hussam, Elajnaf, Taha, Thakker, Rajesh V, Hannan, Fadil M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2022
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175554/
https://www.ncbi.nlm.nih.gov/pubmed/35521792
http://dx.doi.org/10.1530/EJE-21-0730

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9175554/
https://www.ncbi.nlm.nih.gov/pubmed/35521792
http://dx.doi.org/10.1530/EJE-21-0730

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