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...
में बचाया:
| मुख्य लेखकों: | , , , , , |
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| स्वरूप: | Artigo |
| भाषा: | Inglês |
| प्रकाशित: |
Frontiers Media S.A.
2023-01-01
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| श्रृंखला: | Frontiers in Genetics |
| विषय: | |
| ऑनलाइन पहुंच: | https://www.frontiersin.org/articles/10.3389/fgene.2022.1044936/full |
| टैग: |
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