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Literature DB >> 23287330

Mutation analysis of cerebrotendinous xanthomatosis in an Indian case.

Krati Shah, Vivek Mathew, Gian Nicola Gallus, Maria Teresa Dotti, Antonio Federico, Sumita Danda.

Abstract

Entities: Disease Mutation

Mesh：

Substances：

Year: 2012 PMID： 23287330 DOI： 10.4103/0028-3886.105202

Source DB: PubMed Journal: Neurol India ISSN： 0028-3886 Impact factor: 2.117

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

Authors: Atanu Kumar Dutta; Sumita Danda; Karthik Muthusamy; Mathew Alexander; Sniya Valsa Sudhakar; Samuel Hansdak; Rini Bandyopadhyay; G B Bakhya Shree; L Rekha
Journal: Mol Genet Metab Rep Date: 2015-03-23

1 in total