A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing.

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Article

A large deletion within the protein 4.1 gene associated with a stable truncated mRNA and an unaltered tissue-specific alternative splicing.

Blood - 1 Jun 1998

Venezia N D, Maillet P, Morlé L, Roda L, Delaunay J, Baklouti F

Abstract excerpt

Protein 4.1 is a major protein of the red blood cell skeleton. It binds to the membrane through its 30-kD N-terminal domain and to the spectrin-actin lattice through its 10-kD domain. We describe here the molecular basis of a heterozygous hereditary elliptocytosis (HE) associated with protein 4.1...

Topics

Alleles
Alternative Splicing
Base Sequence
Cells, Cultured
Cytoskeletal Proteins
Elliptocytosis, Hereditary
Erythrocyte Membrane
Exons
Humans
Membrane Proteins
Molecular Sequence Data
Neuropeptides
RNA, Messenger
Sequence Deletion

Source

Open in PubMed

Identifiers

PMID: 9596685

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9596685-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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