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
| Data(s) |
01/10/2015
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| Resumo |
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 hypertension. |
| Formato |
application/pdf |
| Identificador |
http://boris.unibe.ch/79277/1/ccr3343.pdf Camats Tarruella, Núria; Üstyol, Ala; Atabek, Mehmet Emre; Dick, Bernhard; Flück, Christa Emma (2015). 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. Clinical case reports, 3(10), pp. 793-797. Wiley 10.1002/ccr3.343 <http://dx.doi.org/10.1002/ccr3.343> doi:10.7892/boris.79277 info:doi:10.1002/ccr3.343 info:pmid:26509008 urn:issn:2050-0904 |
| Idioma(s) |
eng |
| Publicador |
Wiley |
| Relação |
http://boris.unibe.ch/79277/ |
| Direitos |
info:eu-repo/semantics/openAccess |
| Fonte |
Camats Tarruella, Núria; Üstyol, Ala; Atabek, Mehmet Emre; Dick, Bernhard; Flück, Christa Emma (2015). 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. Clinical case reports, 3(10), pp. 793-797. Wiley 10.1002/ccr3.343 <http://dx.doi.org/10.1002/ccr3.343> |
| Palavras-Chave | #610 Medicine & health |
| Tipo |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion PeerReviewed |
