Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. (Q39125751)
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scientific article published on October 2003
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English | Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. |
scientific article published on October 2003 |
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Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. (English)
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Walter D Park
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John F O'Brien
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Patrick A Lundquist
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Daniel L Kraft
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Cate Walsh Vockley
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Pamela S Karnes
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Karen Snow
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1 October 2003
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