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We report molecular genetic analysis of 11 Japanese patients with myophosphorylase deficiency (McArdle's disease). Four reported mutations, frequently observed in patients with McArdle's disease, in exons 1, 5, 14 and 17 were investigated. Seven patients out of 11 were homozygous for a single-codon deletion at codon 708 in exon 17 and one patient was heterozygous for a single-codon deletion with...
Many theories have been advanced but the true physiological function for serum cholinesterase has still not been identified. Evidence has been presented for the abnormal expression of cholinesterase genes in many types of human tumors. Cholinesterase measurements are still used to monitor exposure to organophosphate insecticides and their clinical application requires a good understanding of the...
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