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Article

Structure-function analyses of a common mutation in blacks with transferase-deficiency galactosemia.

Molecular genetics and metabolism - 1 Jan 2000

Lai K, Elsas L J

Abstract excerpt

We previously identified a missense mutation at amino acid 135 of human galactose 1-phosphate uridyltransferase (hGALT) in which a leucine (TTG) was substituted for a serine (TCG), S135L. This mutation was common in black patients with galactosemia and homozygotes (S135L/S135L) had no GALT activity or protein in their erythrocytes or lymphoblasts. However, there was residual GALT activity and protein in their...

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Identifiers

PMID: 11592823
DOI: 10.1006/mgme.2001.3230

Genes

GALT

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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