• Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (PubMed=30497978).
  
• Mutation; HGNC; HGNC:4177; GBA1; Simple; p.Pro454Arg (c.1361C>G) (P415R); ClinVar=VCV000004289; Zygosity=Heterozygous (PubMed=30497978).
  

DOI=10.5962/bhl.title.4090
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PubMed=2464926; PMCID=PMC1715434
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CLPUB00447
Mulivor R.A., Suchy S.F.
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(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=30497978; DOI=10.1016/j.ebiom.2018.11.037; PMCID=PMC6306395
Fog C.K., Zago P., Malini E., Solanko L.M., Peruzzo P., Bornaes C., Magnoni R., Mehmedbasic A., Petersen N.H.T., Bembi B., Aerts J.F.M.G., Dardis A., Kirkegaard T.
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase.
EBioMedicine 38:142-153(2018)