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Genomic DNA sequence electropherograms of the analbuminemic patient and her parents.
The arrow indicates the nucleotide (A) which in this family substitutes the G at position c.1652 +1, the first base of intron 12 in a 5′ GT consensus sequence. The patient (a) is homozygous for the mutation, while both parents (b and c) are heterozygous for the wild-type and mutated alleles, as seen by the presence of two superimposed peaks.
