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Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5α-reductase deficiency. Here, we report a novel homozygous point mutation of SRD5A2 gene at codon 65 in exon 1, due to a proline for alanine substitution in a Turkish family whose proband has severe undervirilization. This mutation has not been reported up to date in association...
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