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Mutation Report for: R127W_human-LIPA
Name
Class
R127W_human-LIPA
Gene_locus
human-LIPA
Mode_of_mutation
Natural mutant
Paper
Vinje_2018_Mol.Genet.Metab_123_169
Vinje_2019_Hum.Mol.Genet_28_3043
Disease
Wolman disease WD, Cholesterol Ester Storage Disease, CESD
Comment
p.R127W p.Arg127Trp R106W p.Arg106Trp in the mature protein
Send your questions or comments to :
Mail to:
Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite:
Lenfant 2013 Nucleic.Acids.Res.
or
Marchot Chatonnet 2012 Prot.Pept Lett.
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