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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9966410/
https://www.ncbi.nlm.nih.gov/pubmed/36834714
http://dx.doi.org/10.3390/ijms24043297