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Article

Mutational analysis of the GALT gene in Filipino patients.

The Kobe journal of medical sciences - 9 Aug 2013

Estrada Sylvia C, Canson Daffodil M, Silao Catherine Lynn T

Abstract excerpt

Classic galactosemia is an inherited metabolic disorder due to mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. This study describes the results of the GALT gene analysis of four unrelated Filipino patients with Classic Galactosemia. DNA extracted from dried blood spots and peripheral blood of the patients, age one month to two and a half years, underwent PCR-amplification with subsequent...

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Identifiers

PMID: 24045215

Genes

GALT

Variants

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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