Molecular Analysis of Two Enzyme Genes,HPRT1andPRPS1,Causing X-Linked Inborn Errors of Purine Metabolism
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257771003738691
Reference10 articles.
1. Molecular analysis of HPRT deficiencies: An update of the spectrum of Asian mutations with novel mutations
2. Molecular Analysis of Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies: Novel Mutations and the Spectrum of Japanese Mutations
3. Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
4. The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
5. Mutations in PRPS1, Which Encodes the Phosphoribosyl Pyrophosphate Synthetase Enzyme Critical for Nucleotide Biosynthesis, Cause Hereditary Peripheral Neuropathy with Hearing Loss and Optic Neuropathy (CMTX5)
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients;BioMed Research International;2014
2. Molecular Analysis of X-Linked Inborn Errors of Purine Metabolism:HPRT1andPRPS1Mutations;Nucleosides, Nucleotides and Nucleic Acids;2011-12
3. Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Mutations in the Asian Population;Nucleosides, Nucleotides and Nucleic Acids;2011-12
4. Anticancer activity and cDNA microarray studies of a (RS)-1,2,3,5-tetrahydro-4,1-benzoxazepine-3-yl]-6-chloro-9H-purine, and an acyclic (RS)-O,N-acetalic 6-chloro-7H-purine;European Journal of Medicinal Chemistry;2011-09
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