Detailed genetic and clinical analysis of a novel de novo variant in HPRT1: Case report of a female patient from Saudi Arabia with Lesch–Nyhan syndrome
Background: Hypoxanthine-guanine phosphoribosyltransferase (HPRT1) deficiency is an inborn error of purine metabolism responsible for Lesch–Nyhan syndrome (LNS). The disease is inherited in an X-linked recessive manner and predominantly affects male individuals. Female individuals can carry a mutati...
I tiakina i:
| Ngā kaituhi matua: | , , , , , |
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| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Frontiers Media S.A.
2023-01-01
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| Rangatū: | Frontiers in Genetics |
| Ngā marau: | |
| Urunga tuihono: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1044936/full |
| Ngā Tūtohu: |
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