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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Bibliographic Details
Published in:J Clin Invest
Main Authors: Kvittingen, E A, Rootwelt, H, Berger, R, Brandtzaeg, P
Format: Artigo
Language:Inglês
Published: American Society for Clinical Investigation 1994
Subjects:
Research Article
Online Access: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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