Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis | Zendy

Aad Verrips | Zendy; Gerry C. H. SteenbergenSpanjers | Zendy; Jonathan Luyten | Zendy; Ron A. Wevers | Zendy; John H. J. Wokke | Zendy; F. J. M. Gabre�ls | Zendy; B.G. Wolthers | Zendy; Lambert P.W.J. van den Heuvel | Zendy

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Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

Author(s) -

Aad Verrips,

Gerry C. H. SteenbergenSpanjers,

Jonathan Luyten,

Ron A. Wevers,

John H. J. Wokke,

F. J. M. Gabre�ls,

B.G. Wolthers,

Lambert P.W.J. van den Heuvel

Publication year - 1997

Publication title -

human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.351

H-Index - 137

eISSN - 1432-1203

pISSN - 0340-6717

DOI - 10.1007/s004390050506

Subject(s) - cerebrotendinous xanthomatosis , biology , exon , intron , genetics , sterol , cholestanol , mutation , exon skipping , splice site mutation , gene , splice , biochemistry , cholesterol , alternative splicing

We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.

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