Comparison of genotype and intellectual phenotype in untreated PKU patients.

doi:10.1136/jmg.30.5.401

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Article

Comparison of genotype and intellectual phenotype in untreated PKU patients.

Journal of medical genetics - 1 May 1993

Ramus S J, Forrest S M, Pitt D B, Saleeba J A, Cotton R G

Abstract excerpt

We have screened 55 untreated phenylketonuria patients from 42 families for common mutations of the phenylalanine hydroxylase gene and determined both causative alleles in 12 families. The correlation between genotype and intellectual phenotype of patients in these families was examined. Our resu...

Topics

Alleles
Base Sequence
DNA
Gene Frequency
Genotype
Humans
Intellectual Disability
Intelligence
Molecular Sequence Data
Mutation
Phenotype
Phenylalanine Hydroxylase
Phenylketonurias
Polymerase Chain Reaction

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