Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype correlations
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2005.00490.x/fullpdf
Reference30 articles.
1. Niemann-Pick disease type C;Vanier;Clin Genet,2003
2. Cellular pathology of Niemann-Pick type C disease;Ikonen;Semin Cell Dev Biol,2004
3. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing;Vanier;Biochim Biophis Acta,1991
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