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Article

Characterization of an unusual deletion of the galactose-1-phosphate uridyl transferase (GALT) gene.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2006

Coffee Bradford, Hjelm Lawrence N, DeLorenzo Angela, Courtney Ebony M, Yu Chunli, Muralidharan Kasinathan

Abstract excerpt

PURPOSE: We previously reported a deletion of the Galactose-1-Phosphate Uridyl Transferase (GALT) gene. This deletion can cause apparent homozygosity for variants located on the opposite allele, potentially resulting in a discrepancy between the biochemical phenotype and the apparent genotype in...

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Source

Identifiers

PMID: 17079880
DOI: 10.1097/01.gim.0000237720.78475.fb

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-17079880-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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