High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians

BACKGROUND: Congenital adrenal hyperplasia (CAH) caused by 3β-HSD deficiency is a rare form of congenital adrenal deficiency with an autosomal recessive type of inheritance. Previously we have demonstrated that a single nucleotide variant (SNV) p.Trp230* in the homozygous state is a frequent cause o...

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Detalles Bibliográficos
Autores principales: Makretskaya, Nina, Kalinchenko, Natalia, Tebieva, Inna, Ionova, Sofya, Zinchenko, Rena, Marakhonov, Andrey, Tiulpakov, Anatoly
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236362/
https://www.ncbi.nlm.nih.gov/pubmed/37274334
http://dx.doi.org/10.3389/fendo.2023.1146768

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10236362/
https://www.ncbi.nlm.nih.gov/pubmed/37274334
http://dx.doi.org/10.3389/fendo.2023.1146768

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