Chen, W <br/><br/>
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] 

 -  Biochemistry  Mar 1998 
 - 4420-8 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0006-2960 
<br/><br/><label>Standard No.: </label>10.1021/bi972940a  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alternative Splicing<br/>Base Sequence<br/>Cholestanetriol 26-Monooxygenase<br/>Codon--genetics<br/>Cytochrome P-450 Enzyme System--genetics<br/>DNA Mutational Analysis<br/>Humans<br/>Mutation<br/>Pedigree<br/>Polymerase Chain Reaction<br/>RNA Precursors--genetics<br/>RNA, Messenger--genetics<br/>Steroid Hydroxylases--genetics<br/>Xanthomatosis, Cerebrotendinous--enzymology