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

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)

PubMed=6087154; DOI=10.1038/310412a0
Yang T.P., Patel P.I., Chinault A.C., Stout J.T., Jackson L.G., Hildebrand B.M., Caskey C.T.
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
Caskey C.T.
Disease diagnosis by recombinant DNA methods.
Science 236:1223-1229(1987)

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)