Skip to main content
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1971 Mar;23(2):199–210.

Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

B R Migeon
PMCID: PMC1706686  PMID: 5092480

Full text

PDF
199

Images in this article

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Albertini R. J., Demars R. Diploid azaguanine-resistant mutants of cultured human fibroblasts. Science. 1970 Jul 31;169(3944):482–485. doi: 10.1126/science.169.3944.482. [DOI] [PubMed] [Google Scholar]
  2. DAVIDSON R. G., NITOWSKY H. M., CHILDS B. DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS. Proc Natl Acad Sci U S A. 1963 Sep;50:481–485. doi: 10.1073/pnas.50.3.481. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Dancis J., Berman P. H., Jansen V., Balis M. E. Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria. Life Sci. 1968 Jun 15;7(12):587–591. doi: 10.1016/0024-3205(68)90079-9. [DOI] [PubMed] [Google Scholar]
  4. Danes B. S., Bearn A. G. Hurler's syndrome: a genetic study of clones in cell culture with particular reference to the Lyon hypothesis. J Exp Med. 1967 Sep 1;126(3):509–522. doi: 10.1084/jem.126.3.509. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Emmerson B. T., Wyngaarden J. B. Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency. Science. 1969 Dec 19;166(3912):1533–1535. doi: 10.1126/science.166.3912.1533. [DOI] [PubMed] [Google Scholar]
  6. Felix J. S., DeMars R. Purine requirement of cells cultured from humans affected with Lesch-Nyhan syndrome (hypoxanthine-guanine phosphoribosyltransferase deficiency). Proc Natl Acad Sci U S A. 1969 Feb;62(2):536–543. doi: 10.1073/pnas.62.2.536. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Fujimoto W. Y., Seegmiller J. E. Hypoxanthine-guanine phosphoribosyltransferase deficiency: activity in normal, mutant, and heterozygote-cultured human skin fibroblasts. Proc Natl Acad Sci U S A. 1970 Mar;65(3):577–584. doi: 10.1073/pnas.65.3.577. [DOI] [PMC free article] [PubMed] [Google Scholar]
  8. GARTLER S. M., LINDER D. SELECTION IN MAMMALIAN MOSAIC CELL POPULATIONS. Cold Spring Harb Symp Quant Biol. 1964;29:253–260. doi: 10.1101/sqb.1964.029.01.028. [DOI] [PubMed] [Google Scholar]
  9. HOEFNAGEL D., ANDREW E. D., MIREAULT N. G., BERNDT W. O. HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES. N Engl J Med. 1965 Jul 15;273:130–135. doi: 10.1056/NEJM196507152730303. [DOI] [PubMed] [Google Scholar]
  10. LESCH M., NYHAN W. L. A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION. Am J Med. 1964 Apr;36:561–570. doi: 10.1016/0002-9343(64)90104-4. [DOI] [PubMed] [Google Scholar]
  11. LINDER D., GARTLER S. M. DISTRIBUTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE ELECTROPHORETIC VARIANTS IN DIFFERENT TISSUES OF HETEROZYGOTES. Am J Hum Genet. 1965 May;17:212–220. [PMC free article] [PubMed] [Google Scholar]
  12. LYON M. F. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961 Apr 22;190:372–373. doi: 10.1038/190372a0. [DOI] [PubMed] [Google Scholar]
  13. Migeon B. R., Der Kaloustian V. M., Nyhan W. L., Yough W. J., Childs B. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations. Science. 1968 Apr 26;160(3826):425–427. doi: 10.1126/science.160.3826.425. [DOI] [PubMed] [Google Scholar]
  14. Migeon B. R. X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium. Biochem Genet. 1970 Jun;4(3):377–383. doi: 10.1007/BF00485754. [DOI] [PubMed] [Google Scholar]
  15. NANCE W. E. GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE. Cold Spring Harb Symp Quant Biol. 1964;29:415–425. doi: 10.1101/sqb.1964.029.01.043. [DOI] [PubMed] [Google Scholar]
  16. Nyhan W. L., Bakay B., Connor J. D., Marks J. F., Keele D. K. Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome. Proc Natl Acad Sci U S A. 1970 Jan;65(1):214–218. doi: 10.1073/pnas.65.1.214. [DOI] [PMC free article] [PubMed] [Google Scholar]
  17. RUSSELL L. B. Mammalian X-chromosome action: inactivation limited in spread and region of origin. Science. 1963 May 31;140(3570):976–978. doi: 10.1126/science.140.3570.976. [DOI] [PubMed] [Google Scholar]
  18. Salzmann J., DeMars R., Benke P. Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells. Proc Natl Acad Sci U S A. 1968 Jun;60(2):545–552. doi: 10.1073/pnas.60.2.545. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES