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Article

Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency.

British journal of haematology - 1 May 1998

Miraglia del Giudice E, Lombardi C, Francese M, Nobili B, Conte M L, Amendola G, Cutillo S, Iolascon A, Perrotta S

Abstract excerpt

This report represents an attempt to define the rate of beta-spectrin de novo mutations affecting mRNA accumulation in patients with hereditary spherocytosis (HS). 19 HS children with haematologically normal parents and varying degrees of spectrin deficiency were studied. 13 of the 19 cases who were heterozygous at the genomic level for polymorphisms in the beta-spectrin coding region were further studied....

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Source

Identifiers

PMID: 9609518
DOI: 10.1046/j.1365-2141.1998.00688.x

Genes

SPTB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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