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Article

Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.

Human mutation - 1 Jan 1998

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

Abstract excerpt

The Duarte allele (D) is a missense mutation (N314D) that produces a characteristic isoform and partial impairment of galactose-1-phosphate uridyltransferase (GALT) in human erythrocytes, fibroblasts, and transformed lymphoblasts. The position of this amino acid is distant, however, from presumptive catalytic site(s) as deduced from a three-dimensional model of crystallized Escherichia coli galT protein. To...

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Source

Identifiers

PMID: 9450900
DOI: 10.1002/(SICI)1098-1004(1998)11:1<28::AID-HUMU5>3.0.CO;2-H

Genes

GALT

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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Duarte allele impairs biostability of galactose-1-phosphate uridyltransferase in human lymphoblasts.PMID 9450900Read ↗

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Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.Semantic proximity Read ↗

A common mutation associated with the Duarte galactosemia allele.Semantic proximity Read ↗

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Molecular characterization of two galactosemia mutations and one polymorphism: implications for structure-function analysis of human galactose-1-phosphate uridyltransferase.Semantic proximity Read ↗

Functional analysis of the human galactose-1-phosphate uridyltransferase promoter in Duarte and LA variant galactosemia.Semantic proximity Read ↗

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Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.Semantic proximity Read ↗

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