Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning-Reference-Cited by-同舟云学术

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Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning

Published:1983-09 Issue:3 Volume:64 Page:288-290
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Dempsey J. L.,Morley A. A.,Seshadri R. S.,Emmerson B. T.,Gordon R.,Bhagat C. I.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/BF00279414.pdf

Reference11 articles.

1. Bakay B, Tucker-Pian C, Seegmiller JE (1980) Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography. Clin Genet 17: 369?374

2. Dancis J, Silvers DN, Balis ME, Cox RP, Schwartz MS (1981) Evidence for the derivation of individual hair roots from three progenitor cells. Hum Genet 58:414?416

3. Dempsey JL, Morley AA (1983) Evidence that thioguanine-resistant lymphocytes detected by autoradiography are mutant cells. Mutat Res 119:203?211

4. Fox RM, Wood MH, O'Sullivan WJ (1971) Studies on the coordinate activity and lability of orotidylate phosphoribosyltransferase and decarboxylase in human erythrocytes, and the effects of allopurinol administration. J Clin Invest 50:1050?1060

5. Gartler SM, Scott RC, Goldstein JL, Campbell B (1971) Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. Science 172:572?573

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4. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: Identification of nine novel mutations;Journal of Inherited Metabolic Disease;2004-11

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