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DYNC2H1 Mutation Analysis
Sequencing chromatograms demonstrating mutations in DYNC2H1 in the three families studied: (A) R01-314, (B) R00-097, and (C) R06-237. (D) Diagram of the DYNC2H1 molecule with the locations of the protein sequence changes predicted by the mutations. The scale below indicates the length of the protein. AAA, ATP binding and hydrolysis domains; C domain, carboxyl-terminal domain; aa, amino acid.
