Lesch–Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members
Author:
Publisher
Informa UK Limited
Subject
Genetics,Molecular Medicine,Biochemistry,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.1080/15257770.2012.714028
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1. A familial disorder of uric acid metabolism and central nervous system function
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3. Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene;Nucleosides, Nucleotides & Nucleic Acids;2017-05-19
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5. Mutation in the Human HPRT1 Gene and the Lesch-Nyhan Syndrome;Nucleosides, Nucleotides & Nucleic Acids;2016-07-05
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