References
Blaskovics ME, Schaeffler GE, Hack S (1974) Phenylalaninaemia. Differential diagnosis.Arch Dis Child 49: 835–843.
Cotton RGH (1990) Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.J Inher Metab Dis 13: 739–750.
Lidsky A, Ledley G, DiLella A et al (1985) Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application to prenatal diagnosis of phenylketonuria.Am J Hum Genet 37: 619–634.
Okano J, Wang T, Eisensmith RC, Woo SLC (1989) PKU mutations among Caucasians.Am J Hum Genet 45: Abstract 828.
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Radeva, B. Relation between phenotype and genotype in phenylketonuric patients from Bulgaria. J Inherit Metab Dis 16, 158–159 (1993). https://doi.org/10.1007/BF00711332
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DOI: https://doi.org/10.1007/BF00711332