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Article

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.

Journal of inherited metabolic disease - 1 Sept 1997

Wells L, Fridovich-Keil J L

Abstract excerpt

Impairment of the human enzyme galactose-1-phosphate uridylyltransferase (GALT) results in the potentially lethal disorder galactosaemia. The S135L mutation, which accounts for almost 50% of the GALT alleles in galactosaemia patients of African-American descent, has been associated with activitie...

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Identifiers

PMID: 9323558
DOI: 10.1023/a:1005314207513

Genes

GALT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-9323558-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.PMID 9323558Read ↗

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