2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis

Lignende værker

• A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis
  af: Schneider, Hauke, et al.
  Udgivet: (2010)
• Mutations in the Bile Acid Biosynthetic Enzyme Sterol 27-Hydroxylase Underlie Cerebrotendinous Xanthomatosis()
  af: Cali, James J., et al.
  Udgivet: (1991)
• Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis
  af: Shiga, K, et al.
  Udgivet: (1999)
• Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
  af: Leitersdorf, E, et al.
  Udgivet: (1993)
• Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism
  af: Wakamatsu, N., et al.
  Udgivet: (1999)