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Article

Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency.

Human mutation - 1 Jan 1997

Arya R, Lalloz M R, Bellingham A J, Layton D M

Abstract excerpt

Triosephosphate isomerase (TPI) deficiency is an autosomal recessive disorder of glycolysis characterized by multisystem disease and lethality in early childhood. Among seven unrelated Northern European kindreds with clinical TPI deficiency studied, a single missense mutation at codon 104 (GAG;Glu-->GAC;Asp) predominated, accounting for 11/14 (79%) mutant alleles. In three families molecular analysis revealed...

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Identifiers

PMID: 9338582
DOI: 10.1002/(SICI)1098-1004(1997)10:4<290::AID-HUMU4>3.0.CO;2-L

Genes

TAT

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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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