AC005479[Secondary Source ID] - Search Results

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Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT. Millat G, et al. Am J Hum Genet. 2001 Nov;69(5):1013-21. doi: 10.1086/324068. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567215 Free PMC article.

Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2.

Verot L, Chikh K, Freydière E, Honoré R, Vanier MT, Millat G. Verot L, et al. Clin Genet. 2007 Apr;71(4):320-30. doi: 10.1111/j.1399-0004.2007.00782.x. Clin Genet. 2007. PMID: 17470133

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