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Article

Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis.

British journal of haematology - 1 Jun 1997

Basserès D S, Pranke P H, Sales T S, Costa F F, Saad S T

Abstract excerpt

Beta-Spectrin Campinas is a novel spectrin variant associated with a shortened beta-chain in a kindred with hereditary elliptocytosis (HE). The propositus and her mother exhibited increased amounts of spectrin dimers and an increase in the alphaI 74 kD fragment from the alpha-chain after partial tryptic digestion of spectrin. The shortened beta-chain appeared as an additional band of approximately 200 kD on...

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Identifiers

PMID: 9207403
DOI: 10.1046/j.1365-2141.1997.932906.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-2026-09-08.1.

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Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis.PMID 9207403Read ↗

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Stop codon in exon 30 (E2069X) of beta-spectrin gene associated with hereditary elliptocytosis in spectrin Nagoya.Semantic proximity Read ↗

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