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

A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.

Blood - 15 Jun 2007

Edelman E Jennifer, Maksimova Yelena, Duru Feride, Altay Cigdem, Gallagher Patrick G

Abstract excerpt

Defects in erythrocyte ankyrin are the most common cause of typical, dominant hereditary spherocytosis (HS). Detection of ankyrin gene mutations has been complicated by allelic heterogeneity, large gene size, frequent de novo mutations, and associated mRNA instability. Using denaturing high-performance liquid chromatography (DHPLC)-based mutation detection, a mutation in the splice acceptor of exon 17 was...

Read the complete abstract on PubMed

Topics

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

Share to Ankyrins
Share to Chromatography, High Pressure Liquid

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

Share to Family Health

Share to Homozygote

Share to RNA Splicing

Share to Spherocytosis, Hereditary

Share to Turkey

Source

Open in PubMed Open full text

Identifiers

PMID: 17327413
DOI: 10.1182/blood-2006-09-046573
PMCID: PMC1890827

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

A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.PMID 17327413Read ↗

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 ↗

Targeted next-generation sequencing identifies novel deleterious variants in ANK1 gene causing severe hereditary spherocytosis in Indian patients: expanding the molecular and clinical spectrum.Semantic proximity Read ↗

Identification and functional analysis of novel SPTB and ANK1 mutations in hereditary spherocytosis patients.Semantic proximity Read ↗

Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.Semantic proximity Read ↗

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

Identification of a novel p.Q1772X ANK1 mutation in a Korean family with hereditary spherocytosis.Semantic proximity Read ↗

A novel splicing mutation of ANK1 is associated with phenotypic heterogeneity of hereditary spherocytosis in a Chinese family.Semantic proximity Read ↗

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

Clinical and molecular evaluation of non-dominant 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 ↗

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.Semantic proximity Read ↗

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