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Article

Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

Blood - 1 Jul 1997

Alloisio N, Texier P, Vallier A, Ribeiro M L, Morlé L, Bozon M, Bursaux E, Maillet P, Gonçalves P, Tanner M J, Tamagnini G, Delaunay J

Abstract excerpt

We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG --> ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozygotes, it yielded a mild form of hereditary sph...

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PMID: 9207478

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-9207478-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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