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Article

[Molecular genetic analysis of phenylketonuria in Bashkiria].

Genetika - 1 Jul 1997

Viktorova T V, Murzabaeva S Sh, Karunas A U, Magzhanov R V, Khusnutdinova E K

Abstract excerpt

Data on RFLP analysis of the phenylalanine hydroxilase (PAH) locus in phenylketonuria (PKU) patients, their parents, and healthy donors from four ethnic groups of Bashkortostan are presented. Forty-one probands were examined; seven and 7 R408W homozygotes and 16 compound heterozygotes carrying one parental chromosome with the R408W mutation and the other chromosome with an unidentified mutation were detected. The...

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Share to PAH gene
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9378295

Genes

PAH

Provenance

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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