Novel SCN1A frameshift mutation with absence of truncated Na V 1.1 protein in severe myoclonic epilepsy of infancy

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Veröffentlicht in:American journal of medical genetics. Part A 2008-09, Vol.146A (18), p.2421-2423
Hauptverfasser: McArdle, Erin J., Kunic, Jennifer D., George, Alfred L.
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container_issue 18
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container_title American journal of medical genetics. Part A
container_volume 146A
creator McArdle, Erin J.
Kunic, Jennifer D.
George, Alfred L.
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doi_str_mv 10.1002/ajmg.a.32448
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source Wiley Online Library Journals Frontfile Complete
title Novel SCN1A frameshift mutation with absence of truncated Na V 1.1 protein in severe myoclonic epilepsy of infancy
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