Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred

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Figure 2.
Figure 2.

Identification of the WDR81 mutation. (A) Genomic structure, predicted protein, and predicted transmembrane domains of WDR81 gene [(EC) extracellular, (C) cytosol]. (B) Confirmation of the missense mutation c.2567C>T (p.P856L) in WDR81 isoform 1 by Sanger sequencing. (C) Sequence homology of WDR81 protein in vertebrates. The box indicates the mutant amino acid. (D) Family B with affected individuals indicated by filled symbols and genotypes shown for WDR81 p.P856L.

This Article

  1. Published in Advance September 1, 2011, doi: 10.1101/gr.126110.111 Genome Res. 21: 1995-2003

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