Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis

مواد مشابهة

• Mutations in the Bile Acid Biosynthetic Enzyme Sterol 27-Hydroxylase Underlie Cerebrotendinous Xanthomatosis()
  بواسطة: Cali, James J., وآخرون
  منشور في: (1991)
• 2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis
  بواسطة: Tian, Di, وآخرون
  منشور في: (2011)
• A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
  بواسطة: Schneider, Hauke, وآخرون
  منشور في: (2010)
• Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
  بواسطة: Leitersdorf, E, وآخرون
  منشور في: (1993)
• Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism
  بواسطة: Wakamatsu, N., وآخرون
  منشور في: (1999)