- Identification of novel mutations in the human HPRT gene.
Identification of novel mutations in the human HPRT gene.
Nucleosides, nucleotides & nucleic acids (2013-03-12)
Khue Vu Nguyen, William L Nyhan
PMID23473102
ABSTRACT
Inherited mutation of the purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT) gives rise to Lesch-Nyhan syndrome (LNS) or Lesch-Nyhan variants (LNVs). We report three novel independent mutations in the coding region of HPRT gene: exon 3: c.141delA, p.D47fs53X; exon 5: c.400G>A, p.E134K; exon 7: c.499A>G, p.R167G from three LNS affected male patients.