(Q74378095)
Statements
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 (English)
W Chen
S Kubota
T Teramoto
Y Nishimura
K Yonemoto