Associated Papers
Germline Mutations in Steroid Metabolizing Enzymes: A Focus on Steroid Transforming Aldo-Keto Reductases.
Detlefsen AJ et al.
International Journal of Molecular Sciences, 2023
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.
Rižner TL et al.
Steroids, 2014
Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.
Fukami M et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2013
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.
Flück CE et al.
American Journal of Human Genetics, 2011
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