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

DOI=10.5962/bhl.title.4090
Lewis Lemon Coriell, Arthur E. Greene;
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
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)

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Am. J. Hum. Genet. 53:330-338(1993)

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