Amino acid substitution in NPC1 that abolishes cholesterol binding reproduces phenotype of complete NPC1 deficiency in mice.

Source:http://linkedlifedata.com/resource/pubmed/id/21896731

Proc. Natl. Acad. Sci. U.S.A. 2011 Sep 13 108 37 15330-5

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PMID
21896731