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Article

A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis.

British journal of haematology - 1 Aug 1997

Bianchi P, Zanella A, Alloisio N, Barosi G, Bredi E, Pelissero G, Zappa M, Vercellati C, Baronciani L, Delaunay J, Sirchia G

Abstract excerpt

The EPB3 gene encodes band 3 (anion exchanger 1) of the red cell membrane. A subset of hereditary spherocytosis (HS) is associated with EPB3 gene mutations and band 3 deficiency. We report a large Italian family in which 10 of the 27 members investigated displayed an autosomal dominant HS. SDS-PAGE revealed a reduction in band 3 in the patients. Screening of the Pst I polymorphic site confirmed the linkage of HS...

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Identifiers

PMID: 9266920
DOI: 10.1046/j.1365-2141.1997.1983013.x

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SDS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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