Mutation of c.244G>T in NR5A1 gene causing 46, XY DSD by affecting RNA splicing

OBJECTIVE: To identify the pathogenic mechanism of the c.244G>T mutation in NR5A1 gene found in a Chinese patient with 46, XY disorders of sex development (DSD). Subjects and methods: Genomic DNA was extracted from a Chinese 46, XY DSD patient. Targeted next-generation and Sanger sequencing were...

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Detalles Bibliográficos
Autores principales: Yu, Bingqing, Gao, Yinjie, Mao, Jiangfeng, Wang, Xi, Nie, Min, Wu, Xueyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406614/
https://www.ncbi.nlm.nih.gov/pubmed/34461970
http://dx.doi.org/10.1186/s13023-021-02002-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406614/
https://www.ncbi.nlm.nih.gov/pubmed/34461970
http://dx.doi.org/10.1186/s13023-021-02002-0

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