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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |