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Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis |
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| Authors: | A Verrips Gerry C H Steenbergen-Spanjers J A F M Luyten R A Wevers John H J Wokke Fons J M Gabreëls Bert G Wolthers Lambert P W J van den Heuvel |
| Institution: | (1) Department of Neurology, University Hospital Nijmegen, P. O. Box 9101, NL-6500 HB Nijmegen, The Netherlands Tel.: +31-24-3613394; Fax: +31-24-3541122; e-mail: A.Verrips@czzoneu.azn.nl, NL;(2) Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, P. O. Box 9101, NL-6500 HB Nijmegen, The Netherlands, NL;(3) Department of Neurology, University Hospital Utrecht, P. O. Box 85500, NL-3508 GA Utrecht, The Netherlands, NL;(4) Central Laboratory for Clinical Chemistry, University Hospital, P. O. Box 30001, NL 9700 RB, Groningen, The Netherlands, 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. Received: 15 March 1997 / Accepted: 26 March 1997 |
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