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Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency

OBJECTIVE: 11β-Hydroxylase deficiency (11β-OHD) caused by mutations in the CYP11B1 gene is the second most common form of congenital adrenal hyperplasia. Both point mutations and genomic rearrangements of CYP11B1 are important causes of 11β-OHD. However, the high degree of sequence identity between...

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Detalles Bibliográficos
Autores principales:	Xie, Hua, Yin, Hui, Ye, Xue, Liu, Ying, Liu, Na, Zhang, Yu, Chen, Xiaoli, Chen, Xiaobo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9171383/ https://www.ncbi.nlm.nih.gov/pubmed/35685215 http://dx.doi.org/10.3389/fendo.2022.882863

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