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Nucleosides Nucleotides Nucleic Acids. 2008 Jun;27(6):559-63. doi: 10.1080/15257770802135745.

Lesch-Nyhan disease.

Author information

  • 1Department of Pediatrics, University of California, San Diego, La Jolla, California 92093, USA. wnyhan@ucsd.edu

Abstract

Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotypes in which enzyme activity is intermediate. A considerable number and variety of mutations in the HPRT gene have been discovered.

PMID:
18600504
DOI:
10.1080/15257770802135745
[PubMed - indexed for MEDLINE]
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