articleTop 1% cited

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

Genomics · 1990 · Vol. 7(2) · pp. 235–244

Richard A. Gibbs✉(Baylor College of Medicine)P N Nguyen(Baylor College of Medicine)Al Edwards(Baylor College of Medicine)Andrew B. Civitello(Baylor College of Medicine)C. Thomas Caskey(Baylor College of Medicine)

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Biochemical and Molecular Research Pneumocystis jirovecii pneumonia detection and treatment Blood disorders and treatmentsBiologyHypoxanthine-guanine phosphoribosyltransferaseGeneticsExonLesch–Nyhan syndromeGeneMolecular biologyPrimer (cosmetics)PhosphoribosyltransferaseMultiplex polymerase chain reaction

MeSH terms

Base SequenceChromosome DeletionDNAExonsFemaleGenesGenetic Carrier ScreeningHumansHypoxanthine PhosphoribosyltransferaseLesch-Nyhan SyndromeMaleMolecular Sequence DataPedigreePolymerase Chain Reaction

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325

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13.61

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99%

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References

The Metabolic Basis of Inherited Disease