REFERENCES
- Lesch , M. and Nyhan , W. L. 1964 . A familial disorder of uric acid metabolism and central nervous system function . Am. J. Med. , 36 : 561 – 570 .
- Jinnah , H. A. , Pico , I. C. and Torres , R. J. 2010 . Attenuated variants of Lesch-Nyhan disease . Brain , 133 : 671 – 689 .
- Patel , P. I. , Framson , P. E. , Caskey , C. T. and Chinault , A. C. 1986 . Fine structure of the human hypoxanthine phosphoribosyl transferase gene . Mol. Cel. Biol. , 6 : 393 – 403 .
- Theodore , M. P. , Broock , R. L. , Nyhan , W. L. and Nieto , L. H. 1986 . Use of selective media for distinguishing variant form of hypoxanthine phosphoribosyl tranferase . Clin. Chim. Acta , 154 : 195 – 202 .
- Yamada , Y. , Goto , H. , Tamura , S. and Ogasawara , N. 1993 . Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: a point mutation at the consensus region of RNA splicing (HPRT KEIO) . Jpn. J. Human Genet. , 38 : 413 – 419 .
- Kelley , W. N. , Rosenbloom , F. M. , Henderson , J. F. and Seegmiller , J. E. 1967 . A specific enzyme defect in gout associated with overproduction of uric acid . Proc. Natl. Acad. Sci. USA , 57 : 1735 – 1739 .
- Yang , T. P. , Patel , P. I. , Chinault , A. C. , Stout , J. T. , Jackson , L. G. , Hildebrand , B. M. and Caskey , C. T. 1984 . Molecular evidence for new mutation at the hprt locus in Lesh-Nyhan patients . Nature , 310 : 412 – 414 .
- Wilson , J. M. , Stout , J. T. , Palella , T. D. , Davidson , B. L. , Kelley , W. N. and Caskey , C. T. 1986 . A molecular survey of hypoxanthine-guanine phosphoribosyl transferase deficiency in man . J. Clin. Invest. , 77 : 188 – 195 .
- Gibs , R. A. and Caskey , C. T. 1987 . Identification and localization of mutation at the Lesh-Nyhan locus by ribonuclease A cleavage . Science , 263 : 303 – 305 .
- 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 phosphoribosyl transferase gene in Lesh-Nyhan families . Genomics , 7 : 235 – 244 .
- 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 .
- Torres , R. J. , Mateos , F. A. , Molano , J. , Gathoff , B. S. , O’Neill , J. P. , Gundel , R. M. , Trombley , L. and Puig , J. G. 2000 . Molecular basis of hypoxanthine-guanine phosphoribosyl transferase deficiency in thirteen Spanish families . Hum. Mut. , 15 : 383 – 389 .
- 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 : 1153 – 1160 .
- Dawson , P. A. , Gordon , R. B. , Keough , D. T. and Emmerson , B. T. 2005 . Normal HPRT coding region in a male with gout due to HPRT deficiency . Mol. Genet. Metab. , 85 : 78 – 80 .
- Garcia , M. G. , Torres , R. J. , Prior , C. and Puig , J. G. 2008 . Normal HPRT coding region in complete and partial HPRT deficiency . Mol. Genet. Metab. , 94 : 167 – 172 .
- Garcia , M. G. , Torres , R. J. and Puig , J. G. 2010 . Methylation status of HPRT promoter in HPRT deficiency with normal coding region . Nucleosides Nucleotides Nucleic Acids , 29 : 301 – 305 .