Mild Disease Linked to Slight Changes in AADC Protein Structure

Mild Disease Linked to Slight Changes in AADC Protein Structure

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Mild Disease Linked to Slight Changes in AADC Protein Structure

Recently-characterized mutations that have been associated with mild AADC deficiency cause some alterations to the AADC protein, but do not drastically alter the protein’s structure, according to a new analysis. The data were presented at the WebPro meeting this May in a poster, titled “Compound heterozygosis in AADC deficiency: a complex phenotype dissected through comparison among heterodimeric and homodimeric AADC species.” AADC deficiency is caused by mutations in the DDC gene, which provides the instructions…

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