Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene
- 15 November 1996
- journal article
- case report
- Published by Elsevier in Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Vol. 1317 (2) , 119-126
- https://doi.org/10.1016/s0925-4439(96)00043-9
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner familyHuman Molecular Genetics, 1994
- Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.Journal of Clinical Investigation, 1993
- Cerebrotendinous xanthomatosis: pathophysiological study on bone metabolismJournal of the Neurological Sciences, 1993
- Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosisMetabolism, 1993
- Atherogenic risk factors in cerebrotendinous xanthomatosisClinica Chimica Acta; International Journal of Clinical Chemistry, 1991
- Role of the 26-hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis. An in vivo study.Journal of Clinical Investigation, 1983
- Cerebrotendinous xanthomatosis: a defect in mitochondrial 26-hydroxylation required for normal biosynthesis of cholic acid.Journal of Clinical Investigation, 1980
- A Biochemical Abnormality in Cerebrotendinous Xanthomatosis IMPAIRMENT OF BILE ACID BIOSYNTHESIS ASSOCIATED WITH INCOMPLETE DEGRADATION OF THE CHOLESTEROL SIDE CHAINJournal of Clinical Investigation, 1974
- Cholestanol Deposition in Cerebrotendinous XanthomatosisAnnals of Internal Medicine, 1971
- Cholestanolosis (Cerebrotendinous Xanthomatosis)Archives of Neurology, 1969