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. Author manuscript; available in PMC: 2014 Oct 16.
Published in final edited form as: Neuron. 2013 Oct 16;80(2):10.1016/j.neuron.2013.08.013. doi: 10.1016/j.neuron.2013.08.013

Figure 1. Four families with ASNS mutations.

Figure 1

A. Cosegregation of mutations within each of the four families. Filled symbols represent known or presumed (in the case of aborted fetus) affected individuals. The individuals with a blue star were exome-sequenced.

B. Sanger sequencing confirmation for all three ASNS mutations in the four families. For family D, Sanger sequencing also confirmed inheritance of each mutation from a different parent (compound heterozygote).