Albertini, R. J. and De Mars, R (1974). Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation. Bioch. Genet 11, 397-411.[Medline]
Ansell, J. D., Samuel, K., Whittingham, D. G., Patek, C. E., Hardy, K., Handyside, A. H., Jones, K. W., Muggleton-Harris, A. L., Taylor, A. H. and Hooper, M.L (1991). Hypoxanthine phosphoribosyltransferase deficiency, haematopoiesis and fertility in the mouse. Development 112, 489-498.[Abstract]
Dancis, J., Berman, P. H., Hansen, V. and Balis, M. E (1968). Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci 7, 587-591.[Medline]
Dunnett, S. B., Sirinathsinghji, D. J. S., Heavens, R., Rogers, D. C. and Kuehn, M. R (1989). Monoamine deficiency in a transgenic (Hprt) mouse model of Lesch-Nyhan syndrome. Brain Res 501, 401-406.[Medline]
Endres, W., Helmig, M., Shin, Y. S., Albert, E., Wank, R., Ibel, H., Weiss, M., Hadorn, H.-B. and Haas, R (1991). Bone marrowtransplantation in Lesch-Nyhan disease. J. Inher. Metab. Disease 14, 270-271.[Medline]
Finger, S., Heavens, R. P., Sirinathsinghji, D. J. S., Kuehn, M. R. and Dunnett, S. B (1988). Behavioural and neurochemical evaluations of a transgenic mouse model of Lesch-Nyhan syndrome. J. Neurol. Sci 86, 203-215.[Medline]
Hooper, M. L., Hardy, K., Handyside, A., Hunter, S. and Monk, M (1987). HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonisation by cultured cells. Nature 326, 292-295.[Medline]
Kuehn, M. R., Bradley, A., Robertson, E. J. and Evans, M. J (1987). A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Nature 326, 295-298.[Medline]
Lajtha, L. and Vane, J. R (1958). Dependence of bone marrow cells on the liver for purine supply. Nature 182, 191-192.
Lloyd, K. G. Hornykiewicz, O., Davidson, L., Shannak, K., Farley, I.., Goldstein, M., Shibuya, M., Kelley, W. N. and Fox, I. H (1981). Biochemical analysis of dysfunction in brain neurotransmitters in the Lesch-Nyhan syndrome. N. Eng. J. Med 305, 1106-1111.[Abstract]
McDonald, J. A. and Kelley, W. N (1972). Lesch-Nyhan Syndrome: Absence of mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase. Biochem. Genet 6, 21-26.[Medline]
Micklem, H. S (1986). Renewal and release of hemopoietic stem cells: does clonal succession exist? Commentary. Blood Cells 12, 119-126.
Nyhan, W. L., Parkman, R., Page, T., Gruber, H. E., Pyati, J., Jolly, T. and Friedmann, T (1986). Bone marrow transplantation in Lesch-Nyhan disease. Adv. Exp. Med. Biol 195, 167-170.
Ponder, B. A. J., Schmidt, G. H., Wilkinson, M. M., Wood, M. J., Monk, M. and Reid, A. B (1985). Derivation of mouse intestinal crypts from single progenitor cells. Nature 313, 689-691.[Medline]
Potten, C. S. and Loeffler, M (1990). Stem cells: attributes, cycles, spirals, pitfalls and uncertainties. Lessons for and from the crypt. Development 110, 1001-1020.[Abstract/Free Full Text]
Silverstein, F. S., Johnson, M. V., Hutchinson, R. J. and Edwards, N. L (1983). Lesch-Nyhan syndrome: neurotransmitter abnormalities. Neurology 35, 907-911.[Abstract/Free Full Text]
Thompson, S., Clarke, A. R., Pow, A. M., Hooper, M. L. and Melton, D. W (1989). Germline transmission and expression of a corrected HPRT gene produced by gene targeting in embryonic stem cells. Cell 56, 313-321.[Medline]
Williamson, D. J., Hooper, M. L. and Melton, D. W (1992). Mouse models of hypoxanthine phosphoribosyl transferase deficiency. J. Inher. Metab. Disease 15, 665-673.[Medline]
Wu, C. L. and Melton, D. W (1993). Production of a model for Lesch-Nyhan syndrome in HPRT-deficient mice. Nature Genetics 3, 235-239.[Medline]