Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.

doi:10.1046/j.1365-2141.1998.00868.x

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Article

Homozygous missense mutation (band 3 Fukuoka: G130R): a mild form of hereditary spherocytosis with near-normal band 3 content and minimal changes of membrane ultrastructure despite moderate protein 4.2 deficiency.

British journal of haematology - 1 Sept 1998

Inoue T, Kanzaki A, Kaku M, Yawata A, Takezono M, Okamoto N, Wada H, Sugihara T, Yamada O, Katayama Y, Nagata N, Yawata Y

Abstract excerpt

The characteristics of phenotypic expression were studied in a Japanese family with hereditary spherocytosis and an extremely rare homozygous missense mutation of the band 3 gene (band 3 Fukuoka: G130R). The homozygous unsplenectomized proband was a 29-year-old male with compensated haemolytic an...

Topics

Adult
Anion Exchange Protein 1, Erythrocyte
Base Sequence
Blood Proteins
Cytoskeletal Proteins
DNA, Complementary
Erythrocyte Membrane
Freeze Fracturing
Homozygote
Humans
Male
Membrane Proteins
Microscopy, Electron

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Mutation

Spherocytosis, Hereditary

Source

Open in PubMed

Identifiers

PMID: 9734643
DOI: 10.1046/j.1365-2141.1998.00868.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9734643-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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