Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
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M. Yamagishi | H. Mabuchi | J. Kobayashi | A. Nohara | M. Kawashiri | Akihiro Inazu | J. Koizumi | T. Higashikata | T. Nozue