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The effect of 5α-reductase-2 deficiency on human fertility

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1 The effect of 5α-reductase-2 deficiency on human fertility
Hey-Joo Kang, M.D., Julianne Imperato-McGinley, M.D., Yuan-Shan Zhu, M.B., Ph.D., Zev Rosenwaks, M.D.  Fertility and Sterility  Volume 101, Issue 2, Pages (February 2014) DOI: /j.fertnstert Copyright © Terms and Conditions

2 Figure 1 An illustration of gene mutations in the human 5a-reductase-2 gene. The 61 mutations identified, at present, in the 5aRD2 gene are found throughout all five exons of the gene, and range from a single-point defect to a gene deletion. These mutations include 50 missense mutations, 6 small deletions, 3 splicing junction alterations, 1 single nucleotide insertion, and 1 large deletion involving the entire gene. (Adapted and updated from Zhu YS, Imperato-McGinley J [5]. Reprinted by permission of the publisher.) Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © Terms and Conditions

3 Figure 2 Illustration of the role of T and dihydrotestosterone in male sexual differentiation in utero. (Adapted from Imperato-McGinley J et al. [6]. Reprinted by permission of the publisher.) Fertility and Sterility  , DOI: ( /j.fertnstert ) Copyright © Terms and Conditions


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