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

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.

American journal of hematology - 1 May 1998

Hayette S, Carré G, Bozon M, Alloisio N, Maillet P, Wilmotte R, Pascal O, Reynaud J, Reman O, Stéphan J L, Morlé L, Delaunay J

Abstract excerpt

We present two distinct truncated variants of ankyrin associated with mild to moderate hereditary spherocytosis. Ankyrin Saint-Etienne 1 was manifested by an additional band located between bands 2.1 and 2.2. It was associated with a nonsense mutation in exon 39: TGG-->TGA; W1721X. Ankyrin Saint-Etienne 2 appeared as two faint bands underlining bands 2.1 and 2.2. It was associated with a nonsense mutation in exon...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Ankyrins
Share to Base Sequence

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Child, Preschool

Share to CGA gene

Share to Genetic Variation

Share to Mutation

Share to RNA, Messenger

Source

Identifiers

PMID: 9590147
DOI: 10.1002/(sici)1096-8652(199805)58:1<36::aid-ajh7>3.0.co;2-1

Genes

CGA

Variants

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

Two distinct truncated variants of ankyrin associated with hereditary spherocytosis.PMID 9590147Read ↗

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 ↗

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

Human ankyrins and their contribution to disease biology: An updateSemantic proximity Read ↗

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

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

Hematologically important mutations: spectrin and ankyrin variants in hereditary spherocytosis.Semantic proximity Read ↗

Hematologically important mutations: ankyrin variants in hereditary spherocytosis.Semantic proximity Read ↗

AnkyrinsSemantic proximity Read ↗

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

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

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

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

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