c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disorder of bile acid synthesis caused by mutations in the CYP27A1 gene. CTX is an underdiagnosed and potentially treatable disease, thus a detailed appreciation of the phenotypic spectrum and genetic characteristics are cruc...

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Detalles Bibliográficos
Autores principales: Jiang, Jingwen, Chen, Guang, Wu, Jingying, Luan, Xinghua, Zhou, Haiyan, Liu, Xiaoli, Zhu, Zeyu, Song, Xiaoxuan, Wang, Shige, Qian, Xiaohang, Du, Juanjuan, Huang, Xiaojun, Zhang, Mei, Xu, Wei, Cao, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342084/
https://www.ncbi.nlm.nih.gov/pubmed/32714376
http://dx.doi.org/10.3389/fgene.2020.00682

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