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Article

A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.

Blood - 15 May 1993

Alloisio N, Wilmotte R, Maréchal J, Texier P, Denoroy L, Féo C, Benhadji-Zouaoui Z, Delaunay J

Abstract excerpt

Spectrin Oran (alpha II/21) has been reported previously as a variant of the alpha II domain. Its expression level is low (10% of total spectrin) in heterozygotes denoting a major disadvantage of the mutated alpha-chain dimer or tetramer with respect to their normal counterparts. Spectrin Oran is associated with symptomatic elliptocytosis in the homozygous state. A 1-minute digestion time allowed to perceive a...

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PMID: 8490186

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

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A splice site mutation of alpha-spectrin gene causing skipping of exon 18 in hereditary elliptocytosis.PMID 8490186Read ↗

Spectrin Jendouba: an alpha II/31 spectrin variant that is associated with elliptocytosis and carries a mutation distant from the dimer self-association site.Semantic proximity Read ↗

A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.Semantic proximity Read ↗

Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya.Semantic proximity Read ↗

Poikilocytic hereditary elliptocytosis associated with spectrin Alexandria: an alpha I/50b Kd variant that is caused by a single amino acid deletion.Semantic proximity Read ↗

Four different mutations in codon 28 of alpha spectrin are associated with structurally and functionally abnormal spectrin alpha I/74 in hereditary elliptocytosis.Semantic proximity Read ↗

Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis.Semantic proximity Read ↗

Spectrin Anastasia (alpha I/78): a new spectrin variant (alpha 45 Arg-->Thr) with moderate elliptocytogenic potential.Semantic proximity Read ↗

Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation.Semantic proximity Read ↗

Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in spectrin Genova (alpha I/74).Semantic proximity Read ↗

A large erythroid spectrin beta-chain variant.Semantic proximity Read ↗

A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis.Semantic proximity Read ↗

Identification of three novel spectrin alpha I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site.Semantic proximity Read ↗

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