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

Ahmed MS, Afsar S, Hentati A, Ahmad A, Pasha J, Juneja T, Hung WY, Ahmad A, Choudhri A, Saya S, Siddique T. A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis. Neurology. 1997 Jan; 48(1):258-60.

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