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. 2010 Jan 15;16:46–52.

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Copyright © 2010 Molecular Vision.

This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Co-segregation study of members of family 1 using the HaeIII restriction enzyme. Lane 1 is an undigested PCR product (286 bp). Lane 2 is a completely digested PCR product representing the wild-type allele (two products 197 and 56 bp). Affected individuals (lanes 4, 8, 9, and 10) show the homozygous mutant allele (one product 253 bp). Unaffected individuals, carriers (lanes 3, 5, 6, and 7) display the mutant allele in a heterozygous state (two products 253 and 197 bp). M represents the ϕX174RF DNA HaeIII marker.