View source for JASReference:Kim KS:Kubota S:Kuriyama M:Fujiyama J:Björkhem I:Eggertsen G:Seyama Y:,J Lipid Res,1994,35,1031

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{{JASReference|mutation=
&&CYP27/Mut/1420/C-T&&R474W&&exon8
&&CYP27/Mut/1421/G-A&&R474Q&&exon8
|title=Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX)
|doi=
|pmid=7915755
}}

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