A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

SRY-mutation-caused sex reversal is a rare disease and mostly associated with a de novo mutation since the patients with defective SRY is infertile. There are many reports about SRY-mutation associated 46, XY ovarian disorder of sex development (DSD), but few described their molecular mechanism. Her...

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Detalles Bibliográficos
Autores principales: Fan, Wufang, Wang, Bei, He, Shanshan, Zhang, Tengfei, Yin, Chenxing, Chen, Yunping, Zheng, Shuqi, Zhang, Jixia, Li, Lin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193406/
https://www.ncbi.nlm.nih.gov/pubmed/28030592
http://dx.doi.org/10.1371/journal.pone.0168484

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193406/
https://www.ncbi.nlm.nih.gov/pubmed/28030592
http://dx.doi.org/10.1371/journal.pone.0168484

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