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. 2011 Dec 19;12(12):9471–9480. doi: 10.3390/ijms12129471

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© 2011 by the authors; licensee MDPI, Basel, Switzerland.

This article is an open-access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).

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Electropherogram of part of exon 2: (A) Homozygous CAA > CGA nucleotide change in codon 126 identified in patient 1; (B) Normal CAA sequence in a control individual; (C) Multiple amino acid alignments with: human SRD5A2, human SRD5A1 isoenzyme and enzymes of vertebrate animals’ orthologs. The glutamine residue (Q126) is shaded. The UniProt accession numbers for 5α-reductase protein sequences are: Homo sapiens (SRD5A2: P31213 and SRD5A1: P18405), Macaca fascicularis (SRD5A2: Q28892 and SRD5A1: Q28891), Sus scrofa (SRD5A2: O18765), Mus musculus (SRD5A2: Q99N99 and SRD5A1: Q68FF9), Rattus norvegicus (SRD5A2: P31214 and SRD5A1: P24008), Bos taurus (SRD5A1: A5PJS2), Danio rerio (SRD5A1: A5PMI4), Oryzias latipes (SRD5A1: A5HL61), Xenopus tropicalis (SRD5A1: Q6DF23).