Eighteen novel mutations in patients with Lesch-Nyhan syndrome or partial hypoxanthine phosphoribosyltransferase deficiency
Author:
Affiliation:
1. ; Institut für Humangenetik; Universitäts-Klinikum Eppendorf; Butenfeld 42 Hamburg D-22529 Germany
2. ; Institut für Humangenetik; Ernst-Moritz-Arndt-Universität; Greifswald Germany
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005522527689/fullpdf
Reference3 articles.
1. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP;Eads;Cell,1994
2. A review of the molecular basis of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency;Sculley;Hum Genet,1992
3. Studies in fibroblasts of patients with Lesch-Nyhan syndrome and HPRT variants;Willers;Enzyme,1984
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1. Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease;Nucleosides, Nucleotides and Nucleic Acids;2017-11-02
2. Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients;BioMed Research International;2014
3. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder;Brain;2013-08-22
4. Purine Biochemistry;Gout;2012-08-22
5. Genotype-Phenotype Correlations in Lesch-Nyhan Disease;Journal of Biological Chemistry;2012-01
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