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Dideoxy sequencing results after subcloning with TOPO TA cloning kit (see Methods). (A) The upper row shows confirmation of the deletion (c.1430delC, p. Ser477FfsTer9; black arrow); the lower row shows the de novo mutation (c.1429T > C, p. Ser477Pro; black box) in the index patient. (B) The upper row shows wild-type sequence; the lower row shows confirmation of the carrier status of a deletion (c.1430delC, p. Ser477FfsTer9; black arrow) in the mother of the index patient.
