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Type 1 hereditary tyrosinemia. Evidence for molecular heterogeneity and identification of a causal mutation in a French Canadian patient.

Type 1 hereditary tyrosinemia (HT1) is a metabolic disorder caused by a deficiency of fumarylacetoacetate hydrolase (FAH). Using a full-length FAH cDNA and specific antibodies, we investigated liver specimens from seven unrelated HT1 patients (six of French Canadian and one of Scandinavian origin)....

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Autors principals: Phaneuf, D, Lambert, M, Laframboise, R, Mitchell, G, Lettre, F, Tanguay, R M
Format: Artigo
Idioma:Inglês
Publicat: 1992
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC443158/
https://ncbi.nlm.nih.gov/pubmed/1401056
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