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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Clin Case Rep
मुख्य लेखकों: Camats, Núria, Üstyol, Ala, Atabek, Mehmet Emre, Dick, Bernhard, Flück, Christa E
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: John Wiley & Sons, Ltd 2015
विषय:
ऑनलाइन पहुंच: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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