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Article

Identical germ-line mutations in the triosephosphate isomerase alleles of two brothers are associated with distinct clinical phenotypes.

Comptes rendus de l'Academie des sciences. Serie III, Sciences de la vie - 1 Mar 2000

Valentin C, Cohen-Solal M, Maquat L, Horányi M, Inselt-Kovács M, Hollán S

Abstract excerpt

We describe here a new stop mutation at triosephosphate isomerase (TPI) position 145 in a Hungarian family for which the first mutation (240 Phe-->Leu) was published earlier. The entire genomic TPI locus (exons, introns and promoter) was sequenced and found to be identical in the two compound-heterozygote brothers. Both brothers have the same well-compensated level of non-spherocytic hemolytic anemia and very...

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PMID: 10782327
DOI: 10.1016/s0764-4469(00)00128-1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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