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Article

Mutation database for the galactose-1-phosphate uridyltransferase (GALT) gene.

Human mutation - 1 Oct 2007

Calderon Fernanda R O, Phansalkar Amit R, Crockett David K, Miller Martin, Mao Rong

Abstract excerpt

Classical galactosemia is an autosomal recessive disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. Our group developed a disease-specific database containing all of the reported sequence variants in GALT (Available at: http://arup.utah.edu/database/galactosemia/GALT_welcome.php; Last accessed: 13 April 2007). Currently the database contains a total of 229 sequence variants,...

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Source

Identifiers

PMID: 17486650
DOI: 10.1002/humu.20544

Genes

GALT

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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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