The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene
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| Published in | Neurology Vol. 70; no. 5; p. 402 |
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| Main Authors | , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
29.01.2008
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| Subjects | |
| Online Access | Get more information |
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| Author | Szlago, M Da Pozzo, P Federico, A Patiño, M E Gallus, G N Schenone, A Sfaelo, Z Dotti, M T Rufa, A Cardaioli, E |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/18227423$$D View this record in MEDLINE/PubMed |
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| SubjectTerms | Adolescent Argentina Brain - enzymology Brain - pathology Brain - physiopathology Cholestanetriol 26-Monooxygenase - genetics Cholestanol - blood Cholesterol - metabolism DNA Mutational Analysis Female Genetic Markers - genetics Genetic Predisposition to Disease - genetics Genetic Testing Genotype Humans Intellectual Disability - enzymology Intellectual Disability - genetics Intellectual Disability - physiopathology Magnetic Resonance Imaging Male Mitochondria - enzymology Mitochondria - genetics Mutation - genetics Tremor - enzymology Tremor - genetics Tremor - physiopathology Xanthomatosis, Cerebrotendinous - diagnosis Xanthomatosis, Cerebrotendinous - genetics Xanthomatosis, Cerebrotendinous - physiopathology |
| Title | The first cerebrotendinous xanthomatosis family from Argentina: a new mutation in CYP27A1 gene |
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