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Identification of a frequent pseudodeficiency mutation in the fumarylacetoacetase gene, with implications for diagnosis of tyrosinemia type I.

In healthy individuals, fumarylacetoacetase (FAH) activities close to the range found in hereditary tyrosinemia type 1 (HT1) patients indicated the existence of a "pseudodeficiency" allele. In an individual homozygous for pseudodeficiency of FAH and in three HT1 families also carrying the...

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Autori principali: Rootwelt, H., Brodtkorb, E., Kvittingen, E. A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1994
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918441/
https://ncbi.nlm.nih.gov/pubmed/7977370
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