Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

British journal of haematology - 1 Jun 1996

del Giudice E M, Hayette S, Bozon M, Perrotta S, Alloisio N, Vallier A, Iolascon A, Delaunay J, Morlé L

Abstract excerpt

We report a case of apparently recessive hereditary spherocytosis in an Italian child. The proband exhibited a reduction of overall ankyrin in the red cell membrane. The parents were free of any haematological manifestations. The VNDR associated with the ankyrin gene (ANK1) were consistent with the following diplotypes: AC11/ AC14 (father), AC14/AC14 (mother) and AC11/AC14 (child). The cDNA of the patient...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to Base Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Frameshift Mutation

Share to Molecular Sequence Data

Share to Mutation

Share to Polymorphism, Genetic

Source

Identifiers

PMID: 8703812
DOI: 10.1046/j.1365-2141.1996.d01-1746.x

Genes

ANK1

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ankyrin Napoli: a de novo deletional frameshift mutation in exon 16 of ankyrin gene (ANK1) associated with spherocytosis.PMID 8703812Read ↗

Frequent de novo mutations of the ANK1 gene mimic a recessive mode of transmission in hereditary spherocytosis: three new ANK1 variants: ankyrins Bari, Napoli II and Anzio.Semantic proximity Read ↗

Two Variants of the <i>ANK1</i> Gene Associated with Hereditary SpherocytosisSemantic proximity Read ↗

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

Identification of a de novo ANK1 mutation in a Chinese family with hereditary spherocytosis.Semantic proximity Read ↗

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

Use of minigene assays as a useful tool to confirm the pathogenic role of intronic variations of the ANK1 gene: Report of two cases of hereditary spherocytosis.Semantic proximity Read ↗

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

Clinical and molecular evaluation of non-dominant hereditary spherocytosis.Semantic proximity Read ↗

A de novo ANK1 mutation associated to hereditary spherocytosis: a case reportSemantic proximity Read ↗

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

De novo variations of ANK1 gene caused hereditary spherocytosis in two Chinese children by affecting pre-mRNA splicing.Semantic proximity Read ↗

Ankyrin-linked hereditary spherocytosis in an African-American kindred.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.