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| Title: | Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis |
| Author(s): | Verrips, A. (191126624)
Steenbergen-Spanjers, G.C.H. (298203790)
Luyten, J.A.F.M.
Heuvel, L.P.W.J. van den (07499316X)
Keyser, A. (070091986)
Gabreëls, F.J.M.
Wevers, R.A. (068311508) |
| Publication year: | 1996 |
| Document type: | Article / Letter to editor |
| Journal: | Human Genetics |
| ISSN: | 0340-6717 |
| Volume: | vol. 98 |
| Issue: | iss. 6 |
| Start page: | p. 735 |
| End page: | p. 737 |
| Keywords: | Central Nervous System
Chemistry, Clinical
Energy Metabolism
Fibroblasts
Genetics, Biochemical
Hereditary Diseases
Homocystinuria
Mental Disorders
Metabolic Diseases
Metabolic Processes (Non MeSH)
Metabolism, Inborn Errors
Mitochondria
Mitochondrial Myopathies
Muscle, Skeletal
Mutation
Neural Tube Defects
Neuromuscular Diseases
Pregnancy Complications, Cardiovascular
Vascular Diseases |
| Appears in Collections: | Electronic documents Radboud University
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/23277
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