• Mutation; HGNC; 7758; NEU1; Simple; p.Phe260Tyr (c.779T>A); ClinVar=VCV000002446; Zygosity=Heterozygous (PubMed=9054950).
  
• Mutation; HGNC; 7758; NEU1; Simple; p.Leu363Pro (c.1088T>C); ClinVar=VCV000002447; Zygosity=Heterozygous (PubMed=9054950).
  

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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=9054950; DOI=10.1038/ng0397-316
Pshezhetsky A.V., Richard C., Michaud L., Igdoura S., Wang S.-P., Elsliger M.-A., Qu J.-Y., Leclerc D., Gravel R.A., Dallaire L., Potier M.
Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis.
Nat. Genet. 15:316-320(1997)