Article
Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
Nucleosides, nucleotides & nucleic acids - 3 Jul 2017
Nguyen Khue Vu, Silva Sebastian, Troncoso Monica, Naviaux Robert K, Nyhan William L
Abstract excerpt
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.