Niemann-Pick C disease: functional characterization of three NPC2 mutations and clinical and molecular update on patients with NPC2
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2007.00782.x/fullpdf
Reference36 articles.
1. Recent advances in elucidating Niemann-Pick C disease;Vanier;Brain Pathol,1998
2. Niemann-Pick disease type C;Vanier;Clin Genet,2003
3. Complementation studies in Niemann-Pick disease type C indicate the existence of a second group;Steinberg;J Med Genet,1994
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