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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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A new point mutation in a hypoxanthine phosphoribosyltransferase-deficient patient

R I Hidalgo-Laos1, A Kedar, C A Williams

  • 1Department of Pediatrics, University of Florida College of Medicine, Gainesville 32610-0296, USA.

Pediatric Nephrology (Berlin, Germany)
|November 5, 1997
PubMed

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