| 1 | HPRT1, HPRT1D
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| Human neural stem cells: a model system for the study of Lesch-Nyhan disease neurological aspects.
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| Cristini S, Navone S, Canzi L, Acerbi F, Ciusani E, Hladnik U, de Gemmis P, Alessandri G, Colombo A, Parati E, Invernici G.
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| Hum Mol Genet 19(10):1939-50. Epub 2010 Feb 16. 2010
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| 2 | HPRT1, HPRT1D
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| Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.
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| Ceballos-Picot I, Mockel L, Potier MC, Dauphinot L, Shirley TL, Torero-Ibad R, Fuchs J, Jinnah HA.
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| Hum Mol Genet 18(13):2317-27. Epub 2009 Apr 2.
2009
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| 3 | GHPR, HPRT1, HPRT1D
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| Normal HPRT coding region in complete and partial HPRT deficiency.
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| Garc’a MG, Torres RJ, Prior C, Puig JG.
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| Mol Genet Metab 94(2):167-72. Epub 2008 Mar 7. 2008
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| 4 | HPRT1, HPRT1D
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| A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome.
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| Mizunuma M, Fujimori S, Ogino H, Ueno T, Inoue H, Kamatani N.
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| Hum Mutat 18(5):435-43. 2001
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| 5 | HPRT1D
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| Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient.
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| Aral B, et al.
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| Hum Mutat 7 : 52-58. 1996
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| 6 | HPRT1D
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| Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.
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| Renwick PJ, et al.
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| Clin Genet 48 : 80-84. 1995
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| 7 | HPRT1, HPRT1D
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| A 13 base pair deletion in exon 1 of HPRT Illinois forms a functional GUG initiation codon.
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| Davidson BL, et al.
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| Hum Genet 93 : 300-304. 1994
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