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Showing 1 to 1 of 1 for “"I1061T"”.
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Characterization of a Novel NPC1I1061T Knock-in Mouse Model of Niemann-Pick Type C1 Disease
… most prevalent mutation, NPC1<super>I1061T</super>, resides within the cysteine-rich luminal domain of the NPC1 protein and represents 18-23% of all disease alleles. Previous studies from our laboratory have shown that the NPC1<super>I1061T</super> protein exhibits a markedly reduced …