Genomic and sequence variants of protein kinase A regulatory subunit type 1β (PRKAR1B) in patients with adrenocortical disease and Cushing syndrome

PURPOSE: Protein kinase A (PKA) subunit defects (in PRKAR1A and PRKACA) are known to contribute to adrenal tumor pathogenesis. We studied the PRKAR1B gene for any genetic changes in bilateral adrenocortical hyperplasia (BAH) and cortisol-producing adrenal adenomas (CPA). METHODS: Exome sequencing an...

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Detalles Bibliográficos
Autores principales: Drougat, Ludivine, Settas, Nikolaos, Ronchi, Cristina L., Bathon, Kerstin, Calebiro, Davide, Maria, Andrea Gutierrez, Haydar, Sara, Voutetakis, Antonios, London, Edra, Faucz, Fabio R., Stratakis, Constantine A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796991/
https://www.ncbi.nlm.nih.gov/pubmed/32895490
http://dx.doi.org/10.1038/s41436-020-00958-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7796991/
https://www.ncbi.nlm.nih.gov/pubmed/32895490
http://dx.doi.org/10.1038/s41436-020-00958-1

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