Concepedia

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis

Aad Verrips, Gerry C. H. Steenbergen‐Spanjers, Jonathan Luyten, Ron A. Wevers, John H. J. Wokke, F. J. M. Gabre�ls, B.G. Wolthers, Lambert P.W.J. van den Heuvel

Human Genetics · 1997 · 24 citations · 8 references

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References

8

Cloning, structure, and expression of the mitochondrial cytochrome P-450 sterol 26-hydroxylase, a bile acid biosynthetic enzyme

S Andersson, Daphne L. Davis, Helena Dahlbäck et al. · Journal of Biological Chemistry · 1989 · 1.2K citations · Full text

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Characterization of human sterol 27-hydroxylase. A mitochondrial cytochrome P-450 that catalyzes multiple oxidation reaction in bile acid biosynthesis.

James J. Cali, David W. Russell · Journal of Biological Chemistry · 1991 · 371 citations · Full text

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Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.

Eran Leitersdorf, Ayeleth Reshef, Vardiella Meiner et al. · Journal of Clinical Investigation · 1993 · 200 citations · Full text

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Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography

B.G. Wolthers, Marcel Volmer, Jan van der Molen et al. · Clinica Chimica Acta · 1983 · 100 citations

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Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 beta-ol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis

Bg Wolthers, HT Walrecht, JC van der Molen et al. · Journal of Lipid Research · 1991 · 69 citations · Full text

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