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

Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis.

Blood - 1 Jun 1995

Jarolim P, Rubin H L, Brabec V, Palek J

Abstract excerpt

Combined deficiency of ankyrin and spectrin represents the most common biochemical abnormality in hereditary spherocytosis (HS). To examine whether a decrease in ankyrin mRNA represents a frequent cause of this type of HS, we took advantage of the reported (AC)n microsatellite polymorphism in the 3' untranslated region of ankyrin cDNA. We first measured the number of AC repeats in genomic DNA encoding erythrocyte...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Base Sequence
Share to DNA Mutational Analysis

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

Share to Gene Expression Regulation

Share to Heterozygote

Share to Molecular Sequence Data

Share to RNA, Messenger

Share to Transcription, Genetic

Source

Identifiers

PMID: 7756660

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comparison of the ankyrin (AC)n microsatellites in genomic DNA and mRNA reveals absence of one ankyrin mRNA allele in 20% of patients with hereditary spherocytosis.PMID 7756660Read ↗

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

Ankyrin gene mutations in japanese patients with hereditary spherocytosis.Semantic proximity Read ↗

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

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

Combined spectrin and ankyrin deficiency is common in autosomal dominant hereditary spherocytosisSemantic proximity Read ↗

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

A complex splicing defect associated with homozygous ankyrin-deficient hereditary spherocytosis.Semantic proximity Read ↗

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

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

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

Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression.Semantic proximity Read ↗

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

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