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Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.
Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.
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Family studies of a Lesch-Nyhan patient from an isolated Canadian community.
Am J Hum Genet. 1973 Mar;25(2):134-40.
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An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
Clin Genet. 1973;4(4):353-9. doi: 10.1111/j.1399-0004.1973.tb01931.x.
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Expression of two X-linked genes in human hair follicles of double heterozygotes.
Proc Natl Acad Sci U S A. 1971 Jul;68(7):1425-7. doi: 10.1073/pnas.68.7.1425.
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Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).
Adv Hum Genet. 1976;6:75-163. doi: 10.1007/978-1-4615-8264-9_2.
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A female case of the Leach-Nyhan syndrome.
Tohoku J Exp Med. 1982 Jul;137(3):275-82. doi: 10.1620/tjem.137.275.
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Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.
J Pediatr. 1973 Mar;82(3):472-8. doi: 10.1016/s0022-3476(73)80123-4.
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Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.
Biochem Genet. 1972 Feb;6(1):21-6. doi: 10.1007/BF00485961.
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Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.
Biochem Genet. 1972 Aug;7(1):73-85. doi: 10.1007/BF00487011.
引用本文的文献
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Regional localization of the human factor IX gene by molecular hybridization.
Hum Genet. 1983;65(2):207-8. doi: 10.1007/BF00286666.
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Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.
Hum Genet. 1983;64(2):139-42. doi: 10.1007/BF00327110.
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Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm.
Hum Genet. 1984;65(3):295-9. doi: 10.1007/BF00286521.
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Molecular genetics of the human X chromosome.
J Med Genet. 1985 Aug;22(4):243-9. doi: 10.1136/jmg.22.4.243.
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Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).
Hum Genet. 1985;70(3):249-55. doi: 10.1007/BF00273451.
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The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.
Am J Hum Genet. 1976 Mar;28(2):123-37.
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Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.
Biochem Genet. 1976 Aug;14(7-8):587-93. doi: 10.1007/BF00485837.
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