Hypoxanthine-guanine phosphoribosyltransferase deficiency (HPRT-d): cascade genetic screening in an affected family with HPRT1 c.584A> C mutation
Abstract: The hypoxanthine-guanine phosphoribosyltransferase deficiency (HPRT-d) is an inborn error in purine metabolism with X-linked inheritance responsible for Lesch-Nyhan disease (LND) and its attenuated variants (LNV). LND shows a totally enzymatic deficiency and it`s characteriz...
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| Autores principales: | Luna Pizarro , AG, Grosso , CL, Laróvere , LE |
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| Formato: | Artículo revista |
| Publicado: |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2021
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| Materias: | |
| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/35076 |
| Aporte de: |
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