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Article

PKU in Minas Gerais State, Brazil: mutation analysis.

Annals of human genetics - 1 Nov 2008

Santos L L, Castro-Magalhães M, Fonseca C G, Starling A L P, Januário J N, Aguiar M J B, Carvalho M R S

Abstract excerpt

This work was undertaken in order to ascertain the PKU mutational spectrum in Minas Gerais, Brazil, the relative frequency of the mutations in the State and the origin of these mutations by haplotype determination. Minas Gerais is a trihybrid population formed by miscegenation from Europeans, Africans and Amerindians. All 13 exons of the PAH gene from 78 PKU patients were analyzed, including splicing sites and...

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Identifiers

PMID: 18798839
DOI: 10.1111/j.1469-1809.2008.00476.x

Genes

PAH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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