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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...
Tallennettuna:
| Julkaisussa: | J Clin Invest |
|---|---|
| Päätekijät: | , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
American Society for Clinical Investigation
1994
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| Aiheet: | |
| Linkit: | 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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