Novel Mutations in the Human HPRT Gene-Reference-Cited by-同舟云学术

Novel Mutations in the Human HPRT Gene

Published:2011-06-01 Issue:6 Volume:30 Page:440-445
ISSN:1525-7770
Container-title:Nucleosides, Nucleotides & Nucleic Acids
language:en
Short-container-title:Nucleosides, Nucleotides & Nucleic Acids

Author:

Nguyen Khue Vu¹²,Naviaux Robert K.¹²,Paik Kacie K.¹,Nyhan William L.²

Affiliation:

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

2. b Department of Pediatrics , University of California, San Diego, School of Medicine, San Diego , La Jolla, California, USA

Publisher

Informa UK Limited

Subject

Genetics,Molecular Medicine,Biochemistry,General Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/15257770.2011.588187

Reference16 articles.

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

2. Attenuated variants of Lesch-Nyhan disease

3. Fine structure of the human hypoxanthine phosphoribosyltransferase gene.

4. Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyl transferase

5. Molecular genetic study of a Japanese family with Lesch-Nyhan syndrome: A point mutation at the consensus region of RNA splicing (HPRTKEIO)

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4. Human HPRT1 gene and the Lesch–Nyhan disease: Substitution of alanine for glycine and inversely in the HGprt enzyme protein;Nucleosides, Nucleotides and Nucleic Acids;2017-01-03

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