EXON SKIPPING IN THE STEROL 27-HYDROXYLASE GENE LEADS TO CEREBROTENDINOUS XANTHOMATOSIS

Authors
VERRIPS A STEENBERGENSPANJERS GCH LUYTEN JAFM WEVERS RA WOKKE JHJ GABREELS FJM WOLTHERS BG VANDENHEUVEL LPWJ
Citation
A. Verrips et al., EXON SKIPPING IN THE STEROL 27-HYDROXYLASE GENE LEADS TO CEREBROTENDINOUS XANTHOMATOSIS, Human genetics, 100(2), 1997, pp. 284-286
Citations number
12
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
100
Issue
2
Year of publication
1997
Pages
284 - 286
Database
ISI
SICI code
0340-6717(1997)100:2<284:ESITS2>2.0.ZU;2-K
Abstract
We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthsmatosis: a G-->A transitio n in the splice donor site in intron 4. This mutation leads to skippin g of exon 4. resulting in a loss of 66 amino acids in the CYP 27 enzym e molecule.