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. 2008 Nov 17;14:2067–2075.

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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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Restriction fragment length analysis on the three mutations detected in this study. A: c.99_100insT created a Taq^aI restriction site that cosegregated with the affected individuals and the carriers (370 bp, 470 bp, and 840 bp), but not with unaffected individuals and normal controls (840bp). B: c.8483delC created an MslI restriction site that cosegregated with the affected individuals and the carriers (150 bp, 340 bp, and 490 bp), but not with unaffected individuals and normal control (490 bp). C: c.9450G>A created an EcoRV restriction site that cosegregated with the affected individuals and the carriers (265 bp, and 530 bp), but not with unaffected individuals and normal control (530 bp). Participant identification number is given above each lane. N represents the normal control, and M refers to the DNA ladder in bp.