7 research outputs found

    Schematic representation of <i>ATP1A3</i> mutations.

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    <p>Mutations identified in our cohort are indicated above the gene; all the mutations previously published are indicated in black; novel mutations are indicated in light blue; mutations identified in multiplex cases are underlined; mutations reported in DYT12 are indicated in green; the mutation reported in CAPOS syndrome is indicated in red. The mutation associated with a phenotype combining features of both AHC and RDP is in orange. The 2 most common mutations are in bold. Asterisks mean that 2 different nucleotide changes have been identified for these protein variants.</p
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