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Article

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

The Journal of biological chemistry - 15 Aug 1991

Gallagher P G, Tse W T, Costa F, Scarpa A, Boivin P, Delaunay J, Forget B G

Abstract excerpt

We studied a French kindred with hereditary elliptocytosis associated with a spectrin variant (spectrin LePuy) containing a beta-spectrin chain that is truncated at its C terminus (Dhermy, D., Lecomte, M., Garbarz, M., Bournier, O., Galand, C., Gautero, H., Feo, C., Alloisio, N., Delaunay, J., an...

Topics

Amino Acid Sequence
Base Sequence
DNA
Electrophoresis, Agar Gel
Elliptocytosis, Hereditary
Exons
Humans
Introns
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
Protein Biosynthesis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA Splicing

RNA, Messenger

Spectrin

Source

Identifiers

PMID: 1840591

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1840591-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain.PMID 1840591Read ↗

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