Lesch-Nyhan Disease (LND) is a rare X-linked disorder involving purine metabolism. Its incidence in the population is estimated at 1: 350,000 births and is due to mutations in the HPRT1 gene. In order to better understand the nature of the deletions of this gene, in the scientific study “Detailed Study of HPRT1 Gross Deletions Found in 10 Italian Lesch-Nyhan Families” Continue Reading...
New Scientific Article on Lesch-Nyhan Disease by B.I.R.D.
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