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. 2005 Apr;76(4):592–595. doi: 10.1136/jnnp.2004.046045
Six novel NPC1 mutations in Chinese patients with Niemann–Pick disease type C
C Yang
1, Y Su
1, P Chiou
1, M Fietz
1, C Yu
1, W Hwu
1, M Lee
1
C Yang
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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Y Su
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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P Chiou
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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M Fietz
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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C Yu
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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W Hwu
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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M Lee
1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
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1Department of Medical Genetics, National Taiwan University Hospital, 7 Chung-Shan South Road, Taipei 100, Taiwan.
PMCID: PMC1739572 PMID: 15774455