Figure 2From: A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case reportIdentification of the Ala35Thr mutation. PCR-amplified genomic DNA was sequenced and revealed a G to A transition in the first nucleotide of codon 35 in exon 2 of the FAH gene, leading to a substitution of Ala by Thr.Back to article page