Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

doi:10.1172/JCI116628

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Article

Beta spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1.

The Journal of clinical investigation - 1 Aug 1993

Becker P S, Tse W T, Lux S E, Forget B G

Abstract excerpt

We analyzed the DNA sequence of the cDNA encoding the NH2 terminal region of beta spectrin from members of a kindred with autosomal dominant hereditary spherocytosis associated with defective protein 4.1 binding. We found a point mutation at codon 202 within the 272 amino acid NH2-terminal region...

Topics

Adult
Alleles
Amino Acid Sequence
Animals
Base Sequence
Child
Cytoskeletal Proteins
DNA
Drosophila
Female
Genetic Variation
Humans
Male
Membrane Proteins
Molecular Sequence Data
Neuropeptides
Oligodeoxyribonucleotides
Pedigree

Source

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Identifiers

PMID: 8102379
DOI: 10.1172/JCI116628
PMCID: PMC294892

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8102379-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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