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[DOI] [Google Scholar] 142.Jones EJ, Booth C, Fonseca S, Parker A, Cross K, Miquel-Clopés A, Hautefort I, Mayer U, Wileman T, Stentz R, et al

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The varieties of consequent enzymatic dysfunction resulting from these mutations include impaired binding of substrate and cofactor to the isozyme, blocked formation of a functional isozyme (deletion, nonsense mutation, or splice-junction alterations), and an unstable isozyme resulting in DHT deficiency due to a decreased conversion of testosterone to DHT (5)