Abstract
Summary: 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.
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Lamhonwah, AM., Onizuka, R., Olpin, S.E. et al. OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?. J Inherit Metab Dis 27, 473–476 (2004). https://doi.org/10.1023/B:BOLI.0000037339.25821.87
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DOI: https://doi.org/10.1023/B:BOLI.0000037339.25821.87