The molecular characterisation of hprtchermside and HPRTcoorparoo: two Lesch-Nyhan patients with reduced amounts of mRNA
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference29 articles.
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2. Normal HPRT coding region in a male with gout due to HPRT deficiency;Molecular Genetics and Metabolism;2005-05
3. A recurrent large Alu-mediated deletion in the hypoxanthine phosphoribosyltransferase (HPRT1) gene associated with Lesch-Nyhan syndrome;Human Mutation;2001
4. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases;Mutation Research/Reviews in Mutation Research;2000-10
5. Mutations that alter RNA splicing of the human HPRT gene: a review of the spectrum;Mutation Research/Reviews in Mutation Research;1998-11
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