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Verrips, A. et al.

Verrips, Steenbergen-Spanjers, Luyten, Wevers, Wokke, Gabreëls, Wolthers, van den Heuvel,

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

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.[1]

References

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis. Verrips, A., Steenbergen-Spanjers, G.C., Luyten, J.A., Wevers, R.A., Wokke, J.H., Gabreëls, F.J., Wolthers, B.G., van den Heuvel, L.P. Hum. Genet. (1997) [Pubmed]

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