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1) include 12 genetically distinct metabolic disorders, inherited as an autosomal recessive trait, with an estimated cumulative incidence from 1:6,500 to 1:110,000 [1]

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The PCR product containing the polymorphism rs2070593 was digested with 7 U of Psp CI restriction enzyme (Sibenzyme, Novosibirsk, Russia) producing two fragments of 183 and 180 bp (these bands overlap each other at electrophoresis) in case of the G allele and leaving the A allele uncut (one fragment of 363 bp) on 2%-agarose gel