Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations
- 1 January 2007
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 90 (1), 70-76
- https://doi.org/10.1016/j.ymgme.2006.08.013
Abstract
No abstract availableThis publication has 31 references indexed in Scilit:
- The Spectrum of Mutations Causing HPRT Deficiency: An UpdateNucleosides, Nucleotides and Nucleic Acids, 2004
- The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported casesMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2000
- Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: A point mutation at the consensus region of RNA splicing (HPRTKEIO)Journal of Human Genetics, 1993
- Molecular analysis of five independent Japanese mutant genes responsible for hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencyHuman Genetics, 1992
- Automated DNA sequencing of the human HPRT locusGenomics, 1990
- Fine structure of the human hypoxanthine phosphoribosyltransferase gene.Molecular and Cellular Biology, 1986
- Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase.Proceedings of the National Academy of Sciences, 1983
- A specific enzyme defect in gout associated with overproduction of uric acid.Proceedings of the National Academy of Sciences, 1967
- Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine SynthesisScience, 1967
- A familial disorder of uric acid metabolism and central nervous system functionThe American Journal of Medicine, 1964