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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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

    Statements

    Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. (English)
    Walter D Park
    John F O'Brien
    Patrick A Lundquist
    Daniel L Kraft
    Cate Walsh Vockley
    Pamela S Karnes
    Karen Snow
    1 October 2003
    313-325
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