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Original Articles

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency: Biochemical and Molecular Findings in Six Argentine Patients

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Pages 255-258 | Published online: 04 Apr 2007

REFERENCES

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  • Jinnah , H.A. , Harris , J.C. , Nyhan , W. L. and O’Neill , J. P. 2004 . The spectrum of mutations causing HPRT deficiency: An update . Nucleosides, Nucleotides Nucleic Acids , 23 : 153 – 1160 .
  • Jinnah , H. A. , De Gregorio , L. , Harris , J. C. , Nyhan , W. L. and O’Neill , J. P. 2000 . The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases . Mutat. Res. , 463 : 309 – 326 .
  • Simmonds , H. A. , Duley , J. A. and Davies , P. M. 1991 . “ Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. ” . In Techniques in Diagnostic Human Biochemical Genetics: A Laboratory Manual , Edited by: Wiley-Liss , F. A. 397 – 424 . New York : Hommes .
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  • Gibbs , R. A. , Nguyen , P. N. , Edwards , A. , Civitello , A. B. and Caskey , C. T. 1990 . Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families . Genomics , 7 : 235 – 244 .
  • Sculley , D.G. , Dawson , P. A. , Emmerson , B. T. and Gordon , R. B. 1992 . A review of the molecular basis of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency . Hum. Genet. , 90 ( 3 ) : 195 – 120 .

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