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Sanger sequencing of the coding regions and adjacent non-coding regions of the SERPINA1 gene was performed in all 55 Pi*MZ heterozygotes, in 7 Pi*MM homozygotes, and in one Pi*MS genotype carrier with immunohistochemical evidence of AAT granules in hepatocytes

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Fatal hyperammonaemia due to late-onset ornithine transcarbamylase deficiency

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