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Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I).

Hereditary tyrosinemia is characterized by a deficiency of the enzyme fumarylacetoacetate hydrolase (FAH; E.C.3.7.1.2), the last enzyme in the catabolic pathway of tyrosine. FAH was purified from rat and human liver and was used to immunize rabbits. Specific antibodies were used to probe protein ext...

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Detalhes bibliográficos
Main Authors: Tanguay, R M, Valet, J P, Lescault, A, Duband, J L, Laberge, C, Lettre, F, Plante, M
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683717/
https://ncbi.nlm.nih.gov/pubmed/2378356
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