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223 Lesch-Nyhan syndrome: from patient to mouse model
Introduction. HPRT1 is a Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) coding gene, mutations of which cause, among other diseases, Lesch-Nyhan syndrome. LNS is a severe X-linked recessive neurological disorder. Alignment shows 98.6% homology of human and murine protein sequences. Objective...
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| Publicado no: | J Anim Sci |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6897645/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/jas/skz258.092 |
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