Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients. [electronic resource]
Producer: 19980423Description: 4420-8 p. digitalISSN:- 0006-2960
- Alternative Splicing
- Base Sequence
- Cholestanetriol 26-Monooxygenase
- Codon -- genetics
- Cytochrome P-450 Enzyme System -- genetics
- DNA Mutational Analysis
- Humans
- Mutation
- Pedigree
- Polymerase Chain Reaction
- RNA Precursors -- genetics
- RNA, Messenger -- genetics
- Steroid Hydroxylases -- genetics
- Xanthomatosis, Cerebrotendinous -- enzymology
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.