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Figure 3 | Orphanet Journal of Rare Diseases

Figure 3

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

Figure 3

The Ala35Thr mutation can be confirmed by restriction analysis. Lanes 1 and 5: control. Lanes 2 and 6: the patient's mother. Lanes 3 and 7: the patient's father. Lanes 4 and 8: the patient. Restriction analysis with HAEIII and BstEII, on DNA extracted from blood, confirms heterozygosity for the Ala35Thr mutation in both parents and homozygosity in the patient.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172