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Article

A genomic deletion causes truncation of α-spectrin and ellipto-poikilocytosis.

Blood cells, molecules & diseases - 15 Mar 2011

Iolascon A, King M-J, Robertson S, Avvisati R A, Vitiello F, Asci R, Scoppettuolo M N, Delaunay J

Abstract excerpt

We report on a truncated α-spectrin chain, spectrin(Exeter), associated with ellipto-poikilocytosis. Analysis of erythrocyte membranes of affected individuals revealed a truncated α-spectrin chain with normal amounts of spectrin dimer. In the proband and her father, one haploid set of α-spectrin cDNA lacked exons 11 and 12, leading to partial deletion of repeats α4 and α5 (83 amino acids) of the α-spectrin chain....

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Source

Identifiers

PMID: 21212007
DOI: 10.1016/j.bcmd.2010.12.006

Genes

SPTA1

Provenance

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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