Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree

21-Hydroxylase deficiency (21-OHD) is the most common cause of congenital adrenal hyperplasia. Inherited in an autosomal recessive manner, 21-OHD is caused by mutations in the cytochrome P450 family 21 subfamily A member 2 (CYP21A2) gene. The present study was designed to investigate the genetic cha...

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Detalles Bibliográficos
Autores principales: Liu, Jia, Zhang, Xiujuan, Zhang, Haiqing, Fang, Li, Xu, Jin, Guan, Qingbo, Xu, Chao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2018
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802198/
https://www.ncbi.nlm.nih.gov/pubmed/29328376
http://dx.doi.org/10.3892/mmr.2018.8391

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5802198/
https://www.ncbi.nlm.nih.gov/pubmed/29328376
http://dx.doi.org/10.3892/mmr.2018.8391

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