A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis

ARTICLE ABSTRACT: Mutations of the gene encoding the mitochondrial enzyme sterol 27-hydroxylase (CYP27A1 gene) cause defects in the cholesterol pathway to bile acids that lead to the storage of cholestanol and cholesterol in tendons, lenses and the central nervous system. This disorder is the cause...

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Detalles Bibliográficos
Autores principales: Schneider, Hauke, Lingesleben, Alexandra, Vogel, Hans-Peter, Garuti, Rita, Calandra, Sebastiano
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958880/
https://www.ncbi.nlm.nih.gov/pubmed/20925952
http://dx.doi.org/10.1186/1750-1172-5-27

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2958880/
https://www.ncbi.nlm.nih.gov/pubmed/20925952
http://dx.doi.org/10.1186/1750-1172-5-27

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