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Functional Identification of Compound Heterozygous Mutations in the CYP17A1 Gene Resulting in Combined 17α-Hydroxylase/17,20-Lyase Deficiency
BACKGROUND: We previously reported a patient with congenital adrenal hyperplasia (CAH) with compound heterozygous mutations in the cytochrome P450 17A1 (CYP17A1) gene. One allele had a p.His373Leu and the other a new p.Glu383fsX36 mutation. The aim of this study was to investigate the functional pro...
में बचाया:
| में प्रकाशित: | Endocrinol Metab (Seoul) |
|---|---|
| मुख्य लेखकों: | , , , , , , , |
| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Korean Endocrine Society
2018
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| विषय: | |
| ऑनलाइन पहुंच: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6145962/ https://ncbi.nlm.nih.gov/pubmed/30229581 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3803/EnM.2018.33.3.413 |
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