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Article

A Dde I RFLP in exon 21 of human EL1 gene, encoding protein 4.1, detectable by SSCP.

Human mutation - 1 Jan 1998

Maillet P, Dalla Venezia N, Bozon M, Vallier A, Delaunay J, Baklouti F

Abstract excerpt

Protein 4.1 is a major component of the junctional complex at the red cell skeleton. Genomic studies have recently evidenced that the encoding gene (EL1 locus) is present in a single copy per haploid genome. Several RFLPs have already been characterized within intron sequences. Here, we describe the first RFLP found within the coding sequence. This polymorphism (C or T at position 2723, in exon 21) does not...

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PMID: 9554757

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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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