(Q45087080)
Statements
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A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease (English)
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Enza Di Leo
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Francesca Panico
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Patrizia Tarugi
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Carla Battisti
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Antonio Federico
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Sebastiano Calandra
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1 November 2004
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24
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5
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440
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Identifiers
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1 reference