Učitavanje...
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene
A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hyper...
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| Izdano u: | Clin Case Rep |
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| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley & Sons, Ltd
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4614641/ https://ncbi.nlm.nih.gov/pubmed/26509008 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.343 |
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