Prevalent skipping of an individual exon accounts for shortened protein 4.1 Presles.

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Article

Prevalent skipping of an individual exon accounts for shortened protein 4.1 Presles.

Blood - 1 Dec 1992

Feddal S, Hayette S, Baklouti F, Rimokh R, Wilmotte R, Magaud J P, Maréchal J, Benz E J, Girot R, Delaunay J

Abstract excerpt

An asymptomatic shortened variant of protein 4.1 (-8.5 Kd) was first recognized in the red blood cells and designated protein 4.1 Presles. We show here that the missing segment belongs to the 22/24 Kd domain. Protein 4.1 cDNA from reticulocytes was amplified, mapped, and sequenced. The truncation appeared to result from the prevalent skipping of an individual and alternatively spliced exon, also called motif II,...

Topics

Amino Acid Sequence
Base Sequence
Codon
DNA
Exons
Female
Humans
Male
Membrane Proteins
Molecular Sequence Data
Mutation
Oligodeoxyribonucleotides

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Peptide Mapping

Polymerase Chain Reaction

RNA, Messenger

Restriction Mapping

Reticulocytes

Source

Open in PubMed

Identifiers

PMID: 1450417

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1450417-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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