View source for JASReference:Nakashima N:Sakai Y:Sakai H:Yanase T:Haji M:Umeda F:Koga S:Hoshita T:Nawata H:,J Lipid Res,1994,35,663

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{{JASReference|mutation=
&&CYP27A1/Mut/409/C-T&&R137W&&exon2&&Mut/codon104/C-T&&R104W&&exon2
|title=A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis
|doi=
|pmid=8006521
}}

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