A carregar...
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia
In about 95% of cases, congenital adrenal hyperplasia (CAH) is caused by mutations in CYP21A2 gene encoding steroid 21-hydroxylase (21OH). Recently, we have reported four novel CYP21A2 variants in the Norwegian population of patients with CAH, of which p.L388R and p.E140K were associated with salt w...
Na minha lista:
| Main Authors: | , , , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Bioscientifica Ltd
2014
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3987286/ https://ncbi.nlm.nih.gov/pubmed/24671123 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EC-14-0032 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|