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Niemann-Pick C1 Disease: Correlations between NPC1 Mutations, Levels of NPC1 Protein, and Phenotypes Emphasize the Functional Significance of the Putative Sterol-Sensing Domain and of the Cysteine-Rich Luminal Loop

Author:

Gilles Millat,Christophe Marçais,Catherine Tomasetto,Karim Chikh,Anthony H. Fensom,Klaus Harzer,David A. Wenger,K. Ohno,Marie T. Vanier

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

June 2001

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