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

American journal of human genetics ·Vol. 23 ·No. 2 ·1971-03-00 ·Pages 199-210

Migeon BR

Abstract

暂无摘要

MeSH Terms

Athetosis/genetics Autoradiography Biopsy Cell Survival Clone Cells/enzymology Culture Media Culture Techniques Female Heterozygote Humans Hypoxanthines/metabolism Intellectual Disability/genetics Lesch-Nyhan Syndrome/enzymology,genetics Male Mutation Phenotype Purine-Pyrimidine Metabolism, Inborn Errors/genetics Self Mutilation/genetics Sex Chromosomes/metabolism Skin/enzymology Tritium

Chemicals

Culture Media Hypoxanthines Tritium

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Migeon B R

References (18)

18 references, click to expand

Diploid azaguanine-resistant mutants of cultured human fibroblasts.
Science. 1970 Jul 31;169(3944):482-5 PMID: 17739010
SELECTION IN MAMMALIAN MOSAIC CELL POPULATIONS.
Cold Spring Harb Symp Quant Biol. 1964;29:253-60 PMID: 14278472
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):577-84 PMID: 5267139
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;50:481-5 PMID: 14067093
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):509-22 PMID: 4962269
Single-allele expression at an X-linked hyperuricemia locus in heterozygous human cells.
Proc Natl Acad Sci U S A. 1968 Jun;60(2):545-52 PMID: 5248811
GENETIC TESTS WITH A SEX-LINKED MARKER: GLUCOSE-6-PHOSPHATE DEHYDROGENASE.
Cold Spring Harb Symp Quant Biol. 1964;29:415-25 PMID: 14278486
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.
Science. 1968 Apr 26;160(3826):425-7 PMID: 4868511
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.
Am J Med. 1964 Apr;36:561-70 PMID: 14142409
HEREDITARY CHOREOATHETOSIS, SELF-MUTILATION AND HYPERURICEMIA IN YOUNG MALES.
N Engl J Med. 1965 Jul 15;273:130-5 PMID: 14303658
DISTRIBUTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE ELECTROPHORETIC VARIANTS IN DIFFERENT TISSUES OF HETEROZYGOTES.
Am J Hum Genet. 1965 May;17:212-20 PMID: 14295491
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.
Biochem Genet. 1970 Jun;4(3):377-83 PMID: 5477231
Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.
Life Sci. 1968 Jun 15;7(12):587-91 PMID: 5672660
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):536-43 PMID: 5256231
Mammalian X-chromosome action: inactivation limited in spread and region of origin.
Science. 1963 May 31;140(3570):976-8 PMID: 13975649
Purine metabolism in heterozygous carriers of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Science. 1969 Dec 19;166(3912):1533-5 PMID: 17695080
Gene action in the X-chromosome of the mouse (Mus musculus L.).
Nature. 1961 Apr 22;190:372-3 PMID: 13764598
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):214-8 PMID: 5263751

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1971-03-00

Pages

199-210

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1706686

Subset

External Links

PubMed source PMC Full Text View journal details

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

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