• Mutation; HGNC; HGNC:5157; HPRT1; Unexplicit; Ex6-9del/inv; Zygosity=Hemizygous (PubMed=3296189).
  

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)

PubMed=6087154; DOI=10.1038/310412a0
Thomas P. Yang, Pragna I. Patel, Alan Craig Chinault, John Timothy Stout, Laird G. Jackson, Beth M. Hildebrand, Charles Thomas Caskey;
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients.
Nature 310:412-414(1984)

PubMed=3296189; DOI=10.1126/science.3296189
Charles Thomas Caskey;
Disease diagnosis by recombinant DNA methods.
Science 236:1223-1229(1987)

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)