Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles-Reference-Cited by-同舟云学术

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

Published:1971-05-07 Issue:3983 Volume:172 Page:572-574
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Gartler Stanley M.¹,Scott Ronald C.¹,Goldstein Joseph L.¹,Campbell Barbara¹,Sparkes Robert²

Affiliation:

1. Departments of Genetics, Medicine, and Pediatrics, University of Washington, Seattle 98105

2. Department of Medicine, University of California, Los Angeles

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference11 articles.

1. DANCIS, J, ABSENCE OF MOSAICISM IN LYMPHOCYTE IN X-LINKED CONGENITAL HYPERURICOSURIA, LIFE SCIENCES PART 1 PHYSIOLOGY AND PHARMACOLOGY AND PART 2 BIOCHEMISTRY GENERAL AND MOLECULAR BIOLOGY 7: 587 (1968).

2. GARTLER, S.M., GLUCOSE-6 PHOSPHATE DEHYDROGENASE MOSAICISM - UTILIZATION AS A TRACER IN STUDY OF DEVELOPMENT OF HAIR ROOT CELLS, ANNALS OF HUMAN GENETICS 33: 171 (1969).

3. LAJTHA, L.G., DEPENDENCE OF BONE MARROW CELLS ON THE LIVER FOR PURINE SUPPLY, NATURE 182: 191 (1958).

4. LESCH, M, FAMILIAL DISORDER OF URIC ACID METABOLISM + CENTRAL NERVOUS SYSTEM FUNCTION, AMERICAN JOURNAL OF MEDICINE 36: 561 (1964).

5. MIGEON, B.R., X-LINKED HYPOXANTHINE-GUANINE PHOSPHORIBOSYL TRANSFERASE DEFICIENCY - DETECTION OF HETEROZYGOTES BY SELECTIVE MEDIUM, BIOCHEMICAL GENETICS 4: 377 (1970).

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1. An unusual form of galactosemia: Studies on erythrocytes and hair roots;Clinical Genetics;2008-06-28

2. An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome);Clinical Genetics;2008-04-23

3. Rapid tissue culture and microbiochemical methods for analyzing colonially grown fibroblasts from normal, Lesch-Nyhan and Tay-Sachs patients and amniotic fluid cells;Clinical Genetics;2008-04-23

4. Human hair follicles may be used for population screening of heterozygotes of glucose-6-phosphate dehydrogenase deficiency;Clinical Genetics;2008-04-23

5. Detection of Lesch-Nyhan Syndrome Carriers: Analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography;Clinical Genetics;2008-04-23