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Article

Mutation screening of phenylketonuria in the Far East of Russia.

Journal of human genetics - 1 Jan 1999

Sueoka H, Moshinetsky A, Nagao M, Chiba S

Abstract excerpt

We analyzed mutant genotypes at the human phenylalanine hydroxylase (PAH) locus among phenylketonuria (PKU) patients in the Far East of Russia. A total of 60 variant alleles from 30 PKU families were analyzed for prevalent Caucasian mutations and restriction fragment length polymorphism/variable number of tandem repeats (RFLP/VNTR) haplotypes. Seventy-eight percent of all variant alleles carried six mutations....

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Source

Identifiers

PMID: 10570906
DOI: 10.1007/s100380050180

Genes

PAH

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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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