2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare lipid-storage disease. We investigated the clinic manifestation, histopathology and sterol 27-hydroxylase gene (CYP27A1) in a Chinese family with Cerebrotendinous Xanthomatosis (CTX). CASE PRESENTATION: A 36-year-old female with typical CTX...

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Detalles Bibliográficos
Autores principales: Tian, Di, Zhang, Zai-qiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226568/
https://www.ncbi.nlm.nih.gov/pubmed/22018287
http://dx.doi.org/10.1186/1471-2377-11-130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3226568/
https://www.ncbi.nlm.nih.gov/pubmed/22018287
http://dx.doi.org/10.1186/1471-2377-11-130

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