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Article

IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo - 1 Jan 2020

Costa Roseli Divino, Galera Bianca Borsatto, Rezende Bianca Costa, Venâncio Amanda Cristina, Galera Marcial Francis

Abstract excerpt

OBJECTIVE: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. METHODS: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the "salting-out" method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X,...

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Identifiers

PMID: 32074228
DOI: 10.1590/1984-0462/2020/38/2018351
PMCID: PMC7025444

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