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Hum Genet. 1997 Aug;100(2):284-6.

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

Author information

1
Department of Neurology, University Hospital Nijmegen, The Netherlands. A.Verrips@czzoneu.azn.nl

Abstract

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.

PMID:
9254865
DOI:
10.1007/s004390050506
[Indexed for MEDLINE]

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