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

doi:10.1046/j.1365-2141.1997.932906.x

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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...

Topics

Adult
Elliptocytosis, Hereditary
Exons
Female
Gene Expression Regulation
Humans
Immunoblotting
Mutation
Polymerase Chain Reaction
Sequence Analysis, DNA
Spectrin

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