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Article

High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.

The Journal of pediatrics - 1 Jan 1998

Miraglia del Giudice E, Francese M, Nobili B, Morlé L, Cutillo S, Delaunay J, Perrotta S

Abstract excerpt

OBJECTIVE: To evaluate the frequency of de novo monoallelic expression of the ANK1 gene in hereditary spherocytosis individuals appearing as recessive. STUDY DESIGN: We studied 40 unrelated children with spherocytosis and their normal parents. The genomic distribution of the ankyrin (AC)n dinucleotide repeats was evaluated in the patients showing combined ankyrin and spectrin deficiency. To search for the absence...

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Identifiers

PMID: 9470011
DOI: 10.1016/s0022-3476(98)70495-0

Genes

ANK1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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High frequency of de novo mutations in ankyrin gene (ANK1) in children with hereditary spherocytosis.PMID 9470011Read ↗

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A tetranucleotide deletion in the ANK1 gene causes hereditary spherocytosis; a case of misdiagnosis.Semantic proximity Read ↗

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.Semantic proximity Read ↗

A new ankyrin mutation (ANK1 EXON E9X) causing severe hereditary spherocytosis in the neonatal period.Semantic proximity Read ↗

Ankyrin deficiency is the most common defect in dominant and non dominant hereditary spherocytosis.Semantic proximity Read ↗

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