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The sequence analysis of the deletion breakpoints in two patients. A and B represent the sequence of the proband (III-1) and the other patient (III-2), respectively. The 3-bp insertion (GAG) is boxed. The 5' breakpoint was upstream of the GAG-insertion, while the 3' breakpoint was downstream of this insertion. Sequence alignment with Genbank accession number U52112 and NM_001666 revealed a deletion of a 5,995-bp fragment.
