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10 in total

1. Rapid prenatal diagnosis of HG-PRT deficiency using ultra-microchemical methods.

Authors: P Hösli; C H de Bruyn; F J Oerlemans; M Verjaal; R E Nobrega
Journal: Hum Genet Date: 1977-06-30 Impact factor: 4.132

2. Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation.

Authors: R J Albertini; R DeMars
Journal: Biochem Genet Date: 1974-05 Impact factor: 1.890

3. Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

Authors: U Francke; B Bakay; J D Connor; J G Coldwell; W L Nyhan
Journal: Am J Hum Genet Date: 1974-07 Impact factor: 11.025

4. [Lesch-Nyhan syndrome. Heterozygote detection by biochemical selection of the mutant cells and autoradiography].

Authors: A M Hagemeijer; P Dodinval; J M Andrien
Journal: Humangenetik Date: 1972

5. Mutation analysis and prenatal diagnosis in a Lesch-Nyhan family showing non-random X-inactivation interfering with carrier detection tests.

Authors: S Marcus; A M Steen; B Andersson; B Lambert; U Kristoffersson; U Francke
Journal: Hum Genet Date: 1992-06 Impact factor: 4.132

6. The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.

Authors: U Francke; J Felsenstein; S M Gartler; B R Migeon; J Dancis; J E Seegmiller; F Bakay; W L Nyhan
Journal: Am J Hum Genet Date: 1976-03 Impact factor: 11.025

Review 7. Hypoxanthine-guanine phosphoribosyl transferase deficiency.

Authors: C H de Bruyn
Journal: Hum Genet Date: 1976-02-29 Impact factor: 4.132

8. Disparate enzyme activity in erythocytes and leukocytes. A variant of hypoxanthine phosphoribosyl-transferase deficiency with an unstable enzyme.

Authors: J Dancis; L C Yip; R P Cox; S Piomelli; M E Balis
Journal: J Clin Invest Date: 1973-08 Impact factor: 14.808

9. An enumerative assay of purine analogue resistant lymphocytes in women heterozygous for the Lesch-Nyhan Mutation.

Authors: G H Strauss; E F Allen; R J Albertini
Journal: Biochem Genet Date: 1980-06 Impact factor: 1.890

10. Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.

Authors: W Y Fujimoto; J H Subak-Sharpe; J E Seegmiller
Journal: Proc Natl Acad Sci U S A Date: 1971-07 Impact factor: 11.205

10 in total