Genomic analysis of primordial dwarfism reveals novel disease genes

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Figure 4.
Figure 4.

(AC) Pedigree and stacked Venn diagrams illustrating the exome filtration scheme, sequence chromatogram, and the multisequence alignment of orthologs of the mutation identified in XRCC4. (D) Representative images and the quantification graph in the assessment of “comet tail” lengths from fibroblast cells treated with either XRCC4 or scrambled siRNA 4 h post-IR (5 Gy), showing that XRCC4 deficiency results in impaired DNA damage repair (P = 1.18 × 10−10).

This Article

  1. Genome Res. 24: 291-299

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