Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family.
Meiner
V
V
Division of Medicine, Hadassah University Hospital, Jerusalem, Israel.
Marais
D A
DA
Reshef
A
A
Björkhem
I
I
Leitersdorf
E
E
D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D053493:Cholestanetriol 26-Monooxygenase; D003062:Codon; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics*; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009426:Netherlands / Q000208:ethnology; D016133:Polymerase Chain Reaction; D013019:South Africa; D013250:Steroid Hydroxylases / Q000235:genetics*; D013728:Terminator Regions, Genetic; D014973:Xanthomatosis / Q000201:enzymology / Q000235:genetics*
D003062:Codon; D017931:DNA Primers; D004247:DNA; D003577:Cytochrome P-450 Enzyme System; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase