The Glucocorticoid Receptor Polymorphism Landscape in Patients With Diamond Blackfan Anemia Reveals an Association Between Two Clinically Relevant Single Nucleotide Polymorphisms and Time to Diagnosis

NR3C1, the gene encoding the glucocorticoid receptor, is polymorphic presenting numerous single nucleotide polymorphisms (SNPs) some of which are emerging as leading cause in the variability of manifestation and/or response to glucocorticoids in human diseases. Since 60–80% of patients with Diamond...

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Detalles Bibliográficos
Autores principales: Lonetti, Annalisa, Indio, Valentina, Dianzani, Irma, Ramenghi, Ugo, Da Costa, Lydie, Pospíšilová, Dagmar, Migliaccio, Anna Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Physiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8549833/
https://www.ncbi.nlm.nih.gov/pubmed/34721069
http://dx.doi.org/10.3389/fphys.2021.745032

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