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

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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...

Topics

Alleles
Base Sequence
Child, Preschool
Chromosomes, Human, Pair 18
DNA
Elliptocytosis, Hereditary
Exons
Female
Genetic Carrier Screening
Humans
Male
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides
Pedigree
Polymerase Chain Reaction
Polymorphism, Genetic
RNA Splicing

Source

Open in PubMed

Identifiers

PMID: 8490186

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8490186-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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