• Mutation; HGNC; 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; PMCID=PMC391953
Ernest Beutler, Wanda Kuhl, Joseph Sorge;
Cross-reacting material in Gaucher disease fibroblasts.
Proc. Natl. Acad. Sci. U.S.A. 81:6506-6510(1984)

PubMed=2464926; PMCID=PMC1715434
Meir Wigderson, Nurit Firon, Zeev Horowitz, Sylvia Wilder, Yaakov Frishberg, Orly Reiner, Mia Horowitz;
Characterization of mutations in Gaucher patients by cDNA cloning.
Am. J. Hum. Genet. 44:365-377(1989)

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

PubMed=19815695; DOI=10.2353/jmoldx.2009.090050; PMCID=PMC2765751
Lisa V. Kalman, Jean Amos Wilson, Arlene M. Buller-Burckle, John Dixon, Lisa J. Edelmann, Louis Geller, William Edward Highsmith Jr., Leonard M. Holtegaard, Ruth Kornreich, Elizabeth M. Rohlfs, Toby L. Payeur ...Show all 14 authors... , Tina Sellers, Lorraine H. Toji, Kasinathan Muralidharan; Show fewer authors
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)