Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease-Reference-Cited by-同舟云学术

Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease

Published:2017-11-02 Issue:11 Volume:36 Page:704-711
ISSN:1525-7770
Container-title:Nucleosides, Nucleotides and Nucleic Acids
language:en
Short-container-title:Nucleosides, Nucleotides and Nucleic Acids

Author:

Nguyen Khue Vu¹²,Naviaux Robert K.¹²³,Nyhan William L.²

Affiliation:

1. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, CA, USA

2. Department of Pediatrics, School of Medicine, University of California, San Diego, CA, USA

3. Department of Pathology, School of Medicine, University of California, San Diego, CA, USA

Publisher

Informa UK Limited

Subject

Genetics,Molecular Medicine,Biochemistry,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/15257770.2017.1395037

Reference20 articles.

1. A familial disorder of uric acid metabolism and central nervous system function

2. Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis

3. Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

4. Genotype–phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder

5. Novel Mutations in the Human HPRT Gene

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