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Am J Hum Genet. 1989 Aug; 45(2): 325–331.
PMCID: PMC1683345
PMID: 2502918

Detection of an amino acid substitution in the mutant enzyme for a special type of adenine phosphoribosyltransferase (APRT) deficiency by sequence-specific protein cleavage.

N Kamatani, S Kuroshima, C Terai, Y Hidaka, T D Palella, and K Nishioka
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