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Article

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.

International journal of molecular sciences - 7 Feb 2023

Seo Jieun, Shin Saeam, Kim Sang-Woon, Kim Su Jin, Lee Myeongseob, Song Kyungchul, Suh Junghwan, Lee Seung-Tae, Lee Yong Seung, Chae Hyun Wook, Kim Ho-Seong, Choi Jong Rak, Han Sangwon, Kwon Ahreum

Abstract excerpt

The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the SRD5A2 gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 isozyme (SRD5A2) has been determined. Therefore, the present study retrospectively evaluated the genotype-phenotype correlation from a...

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PMID: 36834714
DOI: 10.3390/ijms24043297
PMCID: PMC9966410

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