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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblasts

Authors :
Pentchev, P.G.
Yamamoto, T.
Ohno, K.
Ninomiya, H.
Matsumoto, M.
Ohta, Y.
Nanba, E.
Tsutsumi, Y.
Yamakawa, K.
Millat, G.
Vanier, M.T.
Source :
Journal of Medical Genetics (JMG); September 1, 2000, Vol. 37 Issue: 9 p707-711, 5p
Publication Year :
2000

Details

Language :
English
ISSN :
00222593 and 14686244
Volume :
37
Issue :
9
Database :
Supplemental Index
Journal :
Journal of Medical Genetics (JMG)
Publication Type :
Periodical
Accession number :
ejs4577335