Associated Papers
Homozygous p.Val89Leu plays an important pathogenic role in 5α-reductase type 2 deficiency patients with homozygous p.Arg246Gln in SRD5A2.
Arya S et al.
European Journal of Endocrinology, 2020
Mutational analysis of SRD5A2: From gene to functional kinetics in individuals with steroid 5α-reductase 2 deficiency.
Ramos L et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2020
Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations.
Alabdullatif MA et al.
Clinical Genetics, 2017
46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene.
Chávez B et al.
Molecular Genetics & Genomic Medicine, 2014
Androgen metabolic genes in prostate cancer predisposition and progression.
Makridakis NM et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2005
Pharmacogenetic analysis of human steroid 5 alpha reductase type II: comparison of finasteride and dutasteride.
Makridakis N et al.
Journal of Molecular Endocrinology, 2005
Identification and characterization of somatic steroid 5alpha-reductase (SRD5A2) mutations in human prostate cancer tissue.
Makridakis N et al.
Oncogene, 2004
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