• Mutation; HGNC; 5391; IDUA; Simple; p.Gly409Arg (c.1225G>C); ClinVar=VCV000092627; Zygosity=Homozygous (PubMed=8328452).
  
• Mutation; HGNC; 5391; IDUA; Simple; p.Ter654Cysext*38 (c.1962A>T); ClinVar=VCV000242721; Zygosity=Homozygous (PubMed=8328452).
  

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=8328452; PMCID=PMC1682364
Bach G., Moskowitz S.M., Tieu P.T., Matynia A., Neufeld E.F.
Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.
Am. J. Hum. Genet. 53:330-338(1993)