Monogenic traits are not simple: lessons from phenylketonuria.

doi:10.1016/s0168-9525(99)01761-8

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Article

Monogenic traits are not simple: lessons from phenylketonuria.

Trends in genetics : TIG - 1 Jul 1999

Scriver C R, Waters P J

Abstract excerpt

The classification of genetic disease into chromosomal, monogenic and multifactorial categories is an oversimplification. Phenylketonuria (PKU) is a classic 'monogenic' autosomal recessive disease in which mutation at the human PAH locus was deemed sufficient to explain the impaired function of the enzyme phenylalanine hydroxylase (enzymic phenotype), the attendant hyperphenylalaninemia (metabolic phenotype) and...

Topics

Alleles
Animals
Cognition
Humans
Phenotype
Phenylalanine
Phenylalanine Hydroxylase
Phenylketonurias

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PMID: 10390625
DOI: 10.1016/s0168-9525(99)01761-8

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