The normal sequence of exon 5 of the transferrin gene and the rearrangement found in the patient with atransferrinemia.

Comparison of the normal sequence of exon 5 of the transferrin gene (A) and the rearrangement found in the patient with atransferrinemia (B). The 10-bp sequence that is deleted from the mutant gene, cDNA 562-571, is shown in bold in the normal sequence. The 9-bp duplication that has been inserted into the mutant gene is underlined. The rearrangement leads to a frameshift and an early termination.