Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis
| Autor: | Verrips, A., Steenbergen-Spanjers, G.C.H., Luyten, J.A.F.M., Heuvel, L.P.W.J. van den, Keyser, A., Gabreëls, F.J.M., Wevers, R.A. |
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| Jazyk: | angličtina |
| Rok vydání: | 1996 |
| Předmět: |
Central Nervous System
Pregnancy Complications Cardiovascular Cardiovascular Biochemical Clinical Metabolic Diseases Genetics Genetics Biochemical Neural Tube Defects Vascular Diseases Metabolic Processes (Non MeSH) Muscle Skeletal GeneralLiterature_REFERENCE(e.g. dictionaries encyclopedias glossaries) Hereditary Diseases Inborn Errors Mental Disorders Mitochondrial Myopathies Skeletal Neuromuscular Diseases Fibroblasts Mitochondria Pregnancy Complications Chemistry Metabolism Chemistry Clinical Mutation Muscle Homocystinuria Energy Metabolism Metabolism Inborn Errors |
| Zdroj: | Human Genetics, 98, 6, pp. 735-737 Human Genetics, 98, 735-737 |
| ISSN: | 0340-6717 |
| Popis: | Contains fulltext : 23277___.PDF (Publisher’s version ) (Open Access) |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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