Clinical utility gene card for: Lesch–Nyhan Syndrome - update 2013
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg2012304.pdf
Reference28 articles.
1. Edwards A, Voss H, Rice P et al: Automated DNA sequencing of the human HPRT locus. Genomics 1990; 6: 593–608.
2. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP : The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000; 463: 309–326.
3. Torres RJ, Mateos FA, Molano J et al: Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families. Hum Mutat 2000; 15: 383.
4. Official website of the Lesch-Nyhan disease International Study Group www.lesch-nyhan.org .
5. Wilson JM, Stout JT, Palella TD, Davidson BL, Kelley WN, Caskey CT : A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. J Clin Invest 1986; 77: 188–195.
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