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OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?

Lamhonwah, AM; Onizuka, R; Olpin, SE; Muntoni, F; Tein, I; (2004) OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation? J INHERIT METAB DIS , 27 (4) 473 - 476.

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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.

Type: Article
Title: OCTN2 mutation (R254X) found in Saudi Arabian kindred: Recurrent mutation or ancient founder mutation?
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Developmental Neurosciences Prog
URI: http://discovery.ucl.ac.uk/id/eprint/120141
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