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Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients

โœ Scribed by Hildebrand, Beth M.; Caskey, C. Thomas; Yang, Thomas P.; Patel, Pragna I.; Chinault, A. Craig; Stout, John T.; Jackson, Laird G.


Book ID
109736175
Publisher
Nature Publishing Group
Year
1984
Tongue
English
Weight
387 KB
Volume
310
Category
Article
ISSN
0028-0836

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โœ Suzanne Marcus; Ernst Christensen; Gunilla Malm ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 515 KB

## Communicated by C. Thomas Caskey We have identified the mutations in the hypoxanthine phosphoribosyltransferase (hprt) gene in five patients with the Lesch Nyhan syndrome (LN) by direct sequencing of hprt cDNA and genomic DNA. Three of the mutations affect splicing of exons 1, 2, and 9, respec