• Mutation; HGNC; 4298; GLB1; Simple; p.Trp273Leu (c.818G>T); ClinVar=VCV000000931; Zygosity=Heterozygous (Coriell=GM01602).
  
• Mutation; HGNC; 4298; GLB1; Simple; p.Arg482His (c.1445G>A); ClinVar=VCV000000932; Zygosity=Heterozygous (Coriell=GM01602).
  

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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=8910459; DOI=10.1074/jbc.271.45.28359
Pshezhetsky A.V., Potier M.
Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate.
J. Biol. Chem. 271:28359-28365(1996)