• Mutation; HGNC; 4177; GBA1; Simple; p.Leu483Pro (c.1448T>C) (L444P); ClinVar=VCV000004288; Zygosity=Heterozygous (Coriell=GM04394).
  

PubMed=6593712; DOI=10.1073/pnas.81.20.6506
Beutler E., Kuhl W., Sorge J.
Cross-reacting material in Gaucher disease fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 81:6506-6510(1984)

PubMed=2464926
Wigderson M., Firon N., Horowitz Z., Wilder S., Frishberg Y., Reiner O., Horowitz M.
Characterization of mutations in Gaucher patients by cDNA cloning.
Am. J. Hum. Genet. 44:365-377(1989)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050
Kalman L.V., Wilson J.A., Buller-Burckle A.M., Dixon J., Edelmann L.J., Geller L., Highsmith W.E. Jr., Holtegaard L.M., Kornreich R., Rohlfs E.M., Payeur T.L., Sellers T., Toji L.H., Muralidharan K.
Development of genomic DNA reference materials for genetic testing of disorders common in people of Ashkenazi Jewish descent.
J. Mol. Diagn. 11:530-536(2009)