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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 results were compared to a study which predicted phenylalanine hydroxylase activity based on genotype and examined its...

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Identifiers

PMID: 8320703
DOI: 10.1136/jmg.30.5.401
PMCID: PMC1016377

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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