(Q43075754)
Statements
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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts (English)
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T Yamamoto
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H Ninomiya
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M Matsumoto
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Y Ohta
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E Nanba
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Y Tsutsumi
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K Yamakawa
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G Millat
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M T Vanier
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P G Pentchev
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K Ohno
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1 September 2000
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37
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707-712
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Identifiers
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