Cerebrotendinous xanthomatosis: Possibility of founder mutation in CYP27A1 gene (c.526delG) in Eastern Indian and Surinamese population

Cerebrotendinous xanthomatosis is a lipid storage disease characterized by diarrhea, cataract, tendon xanthoma and neurological regression if untreated. CYP27A1 is the only gene in which mutations are known to cause Cerebrotendinous xanthomatosis. We report two Indian families from different regions...

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Detalles Bibliográficos
Autores principales: Dutta, Atanu Kumar, Danda, Sumita, Muthusamy, Karthik, Alexander, Mathew, Sudhakar, Sniya Valsa, Hansdak, Samuel, Bandyopadhyay, Rini, Bakhya Shree, G.B., Rekha, L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750635/
https://www.ncbi.nlm.nih.gov/pubmed/26937392
http://dx.doi.org/10.1016/j.ymgmr.2015.03.002

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