Genotype-phenotype correlation in phenylketonuria
Introduction. Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors. Establishing a genotype=phenotype correlation, accessible today through molecular tes...
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Amaltea Medical Publishing House,
2021-12-01T00:00:00Z.
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