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OCTN2 mutation (R254X) found in Saudi Arabian kindred: recurrent mutation or ancient founder mutation?
- Source :
-
Journal of inherited metabolic disease [J Inherit Metab Dis] 2004; Vol. 27 (4), pp. 473-6. - Publication Year :
- 2004
-
Abstract
- The truncating R254X mutation in the OCTN2 gene results in defective high-affinity carnitine transport and has been previously described as a founder mutation in the Chinese population. We now report a Saudi Arabian kindred with this same mutation, suggesting that it may be a recurrent mutation or a very ancient founder mutation. Western blot analysis of skin fibroblast lysates from the proband with our specific anti-murine OCTN2 antibody revealed the absence of the OCTN2 protein.
Details
- Language :
- English
- ISSN :
- 0141-8955
- Volume :
- 27
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Journal of inherited metabolic disease
- Publication Type :
- Academic Journal
- Accession number :
- 15303004
- Full Text :
- https://doi.org/10.1023/B:BOLI.0000037339.25821.87