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Self-induced correction of the genetic defect in tyrosinemia type I.
A mosaic pattern of immunoreactive fumarylacetoacetase (FAH) protein was found in liver tissue in 15 of 18 tyrosinemia type I patients of various ethnic origins. One additional patient had variable levels of FAH enzyme activity in liver tissue. In four patients exhibiting mosaicism of FAH protein, a...
Guardat en:
| Publicat a: | J Clin Invest |
|---|---|
| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
American Society for Clinical Investigation
1994
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC295327/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7929843/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI117509 |
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