Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
| Popis souboru: | application/pdf |
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| ISSN: | 0340-6717 |
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::818189cae98675d876f15c61a582e688 http://hdl.handle.net/2066/25824 |
| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....818189cae98675d876f15c61a582e688 |
| Autor: | G.C.H. Steenbergen-Spanjers, L.P.W.J. van den Heuvel, J.A.F.M. Luyten, Fons J. M. Gabreëls, Aad Verrips, B.G. Wolthers, Ron A. Wevers, J.H.J. Wokke |
| Rok vydání: | 1997 |
| Předmět: |
Adult
Male Cerebrotendineuze xanthomatosis (CTX) RNA Splicing Biology medicine.disease_cause Cerebrotendinous Xanthomatosis Exon Cytochrome P-450 Enzyme System Genetics medicine Humans Point Mutation Hardware_REGISTER-TRANSFER-LEVELIMPLEMENTATION Genetics (clinical) Polymorphism Single-Stranded Conformational Netherlands Mutation Transition (genetics) Point mutation Intron Exons Xanthomatosis Cerebrotendinous Middle Aged Sterol Exon skipping Steroid Hydroxylases Cholestanetriol 26-Monooxygenase Cerebrotendinous xanthomatosis (CTX) Female |
| Zdroj: | Human Genetics, 100, 284-286 Human Genetics, 100, pp. 284-286 Human Genetics, 100, 2, pp. 284-286 |
| ISSN: | 0340-6717 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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