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Figure 3 | BMC Genetics

Figure 3

From: A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

Figure 3

Diagram of RNA alternative transcripts found in the IVS6-1g->t and Q279R patient.The splicing pattern is based on sequence analysis of the RT-PCR transcription products amplified with the primers Tan5 and Tan 51. The alternative transcripts identified are pictured from exons 6 to 10 (represented by boxes). The introns are represented by lines. Black boxes indicate that a cryptic splice site is activated with a subsequent skipping of exonic sequences. Premature stop codons that appear due to frameshift are represented by a stop sign.

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