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Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.
- Source :
- Clinical Genetics; Sep2010, Vol. 78 Issue 3, p296-297, 2p, 1 Black and White Photograph, 1 Diagram, 1 Chart
- Publication Year :
- 2010
-
Abstract
- A letter to the editor is presented regarding Lesch-Nyhan disease (LND), a purine metabolism inborn defect resulting from hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiency.
- Subjects :
- LETTERS to the editor
INBORN errors of metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 00099163
- Volume :
- 78
- Issue :
- 3
- Database :
- Complementary Index
- Journal :
- Clinical Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 52670060
- Full Text :
- https://doi.org/10.1111/j.1399-0004.2010.01428.x