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Article

A prevalent mutation for galactosemia among black Americans.

The Journal of pediatrics - 1 Jan 1996

Lai K, Langley S D, Singh R H, Dembure P P, Hjelm L N, Elsas L J

Abstract excerpt

OBJECTIVE: To define the mutation causing galactosemia in patients of black American origin who have no galactose-1-phosphate uridyltransferase (GALT) activity in erythrocytes but good clinical outcome. METHODS: We discovered a mutation caused by a C-->T transition at base-pair 1158 of the GALT gene that results in a serine-to-leucine substitution at codon 135 (S135L). We developed a method with which to screen...

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Source

Identifiers

PMID: 8551426
DOI: 10.1016/s0022-3476(96)70432-8

Genes

GALT

Variants

Provenance

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

Source receipt: pubmed, retrieved 5 Sept 2026.

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