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Article

Biochemical and molecular studies of 132 patients with galactosemia.

Human genetics - 1 Oct 1994

Ng W G, Xu Y K, Kaufman F R, Donnell G N, Wolff J, Allen R J, Koritala S, Reichardt J K

Abstract excerpt

We evaluated 132 galactosemia patients for the Q188R (glutamine-188 to arginine) mutation in the human galactose-1-phosphate uridyltransferase (GALT) gene and for GALT activity in their hemolysates by a sensitive radioisotopic method. In those without any detectable GALT activity (GG), the Q188R mutation constituted 67% of the alleles. In patients with detectable GALT activity (GV), only 16% of the alleles were...

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Source

Identifiers

PMID: 7927329
DOI: 10.1007/BF00201593

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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