Novel splice-affecting variants in CYP27A1 gene in two Chilean patients with Cerebrotendinous Xanthomatosis

Cerebrotendinous Xanthomatosis (CTX), a rare lipid storage disorder, is caused by recessive loss-of-function mutations of the 27-sterol hydroxylase (CYP27A1), producing an alteration of the synthesis of bile acids, with an accumulation of cholestanol. Clinical characteristics include juvenile catara...

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Detalles Bibliográficos
Autores principales: Smalley, Susan V., Preiss, Yudith, Suazo, José, Vega, Javier Andrés, Angellotti, Isidora, Lagos, Carlos F., Rivera, Enzo, Kleinsteuber, Karin, Campion, Javier, Martínez, J. Alfredo, Maiz, Alberto, Santos, José Luis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2015
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4415556/
https://www.ncbi.nlm.nih.gov/pubmed/25983621
http://dx.doi.org/10.1590/S1415-475738120140087

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