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Y120Cfs*4 and c.1398 + 1G A. Among these mutations, three (c.1288C T, c.359_360del AT and c.1398 + 1G A) are novel. CONCLUSIONS We reported three Chinese PA patients who had PCCA or PCCB mutants. Among them, in the PCCA gene, c.1288C T(p.R430X) was a nonsense mutation, resulting in a truncated protein. c.359_360del AT was a frameshift mutation, leading to a p.Y120Cfs*40 change in the amino acid sequence in the PCCB protein. c.1398 + 1G A was a splicing mutation, causing skipping of the exons 13-14. In conclusio
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