CBG Montevideo: A Clinically Novel SERPINA6 Mutation Leading to Haploinsufficiency of Corticosteroid-binding Globulin

Corticosteroid-binding globulin (CBG) is the main transport protein for cortisol, binding up to 90% in a 1:1 ratio. CBG provides transport of cortisol within the circulation and targeted cortisol tissue delivery. Here, we describe the clinically novel “CBG Montevideo” a SERPINA6 pathogenic variant t...

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Bibliografske podrobnosti
izdano v:J Endocr Soc
Main Authors: Meyer, Emily Jane, Spangenberg, Lucía, Ramírez, Maria José, De Sousa, Sunita Maria Christina, Raggio, Victor, Torpy, David James
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2021
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC8294686/
https://ncbi.nlm.nih.gov/pubmed/34308089
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvab115
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