Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.

doi:10.1046/j.1365-2141.1997.8732504.x

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Article

Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.

British journal of haematology - 1 Jan 1997

Miraglia del Giudice E, Vallier A, Maillet P, Perrotta S, Cutillo S, Iolascon A, Tanner M J, Delaunay J, Alloisio N

Abstract excerpt

We report three novel variants of band 3 associated with hereditary spherocytosis: band 3 Foggia (311delC; ACCCAC-->ACCAC), band 3 Napoli I (447insT; TCT-->TTCT) and band 3 Napoli II (1783N; ATC-->AAC). The first two mutations resulted in premature termination of translation, making one haploid s...

Topics

Anion Exchange Protein 1, Erythrocyte
DNA Mutational Analysis
Erythrocyte Membrane
Female
Gene Deletion
Genes, Dominant
Humans
Male
Membrane Proteins
Mutation
Nucleic Acids
Pedigree
Polymorphism, Genetic
Spherocytosis, Hereditary

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Identifiers

PMID: 9012689
DOI: 10.1046/j.1365-2141.1997.8732504.x

Genes

ANK1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9012689-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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