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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Figure 1

Expression of fumarylacetoacetase (FAH) mRNA and protein in fibroblast extracts. A: Northern blot (1). Patient mRNA in lane 2 and 4, control sample in lane 1 and 3. Upper panel: probed with a 32P-labeled FAH cDNA. Lower panel: reprobed with pig beta-actin. B: Western blot (2). Patient protein in lane 2, control samples in lanes 1, 3 and 4. FAH mRNA is expressed in the patient's fibroblasts, but FAH protein could not be detected.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172