A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

CONTEXT: Isolated 17,20 lyase deficiency is commonly defined by apparently normal 17α-hydroxylase activity but severely reduced 17,20 lyase activity of the bifunctional enzyme cytochrome P450 (CYP) enzyme 17A1 (CYP17A1), resulting in sex steroid deficiency but normal glucocorticoid and mineralocorti...

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Hlavní autoři: Idkowiak, Jan, Randell, Tabitha, Dhir, Vivek, Patel, Pushpa, Shackleton, Cedric H. L., Taylor, Norman F., Krone, Nils, Arlt, Wiebke
Médium: Artigo
Jazyk:Inglês
Vydáno: Endocrine Society 2012
Témata:
JCEM Online: Advances in Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3388247/
https://ncbi.nlm.nih.gov/pubmed/22170710
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2011-2413
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