Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27A1) gene with an autosomal recessive pattern of inheritance. To date, only 19 CTX patients from 16 families have been reported in the Chinese population. RES...

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Detalles Bibliográficos
Autores principales: Tao, Qing-Qing, Zhang, Yun, Lin, Hui-Xia, Dong, Hai-Lin, Ni, Wang, Wu, Zhi-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892200/
https://www.ncbi.nlm.nih.gov/pubmed/31796091
http://dx.doi.org/10.1186/s13023-019-1252-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6892200/
https://www.ncbi.nlm.nih.gov/pubmed/31796091
http://dx.doi.org/10.1186/s13023-019-1252-9

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