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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...

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Bibliografiska uppgifter
Huvudupphovsmän: Kvittingen, E A, Rootwelt, H, Berger, R, Brandtzaeg, P
Materialtyp: Artigo
Språk:Inglês
Publicerad: 1994
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Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC295327/
https://ncbi.nlm.nih.gov/pubmed/7929843
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