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

Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.

Blood - 1 Jun 1992

Kazazian H H, Dowling C E, Hurwitz R L, Coleman M, Stopeck A, Adams J G

Abstract excerpt

Mutations producing beta-thalassemia reach individual gene frequencies greater than .01 in malarial-endemic regions because beta-thalassemia trait individuals have increased genetic fitness over that of normal individuals. Exon 3 of the beta-globin gene has been relatively spared as a site of common beta-thalassemia mutations. Frameshifts caused by the loss of a single nucleotide and nonsense mutations produce...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Base Sequence
Share to Chromosome Deletion

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

Share to Infant

Share to Molecular Sequence Data

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 1586746

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

Dominant thalassemia-like phenotypes associated with mutations in exon 3 of the beta-globin gene.PMID 1586746Read ↗

Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT).Semantic proximity Read ↗

Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.Semantic proximity Read ↗

A novel mutation (nonsense beta 127) in exon 3 of the beta globin gene produces a variable thalassaemic phenotype.Semantic proximity Read ↗

Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report.Semantic proximity Read ↗

Dominantly Inherited beta-Thalassemia.Semantic proximity Read ↗

A deletion of 11 bp (CD 131-134) in exon 3 of the beta-globin gene produces the phenotype of inclusion body beta-thalassemia.Semantic proximity Read ↗

Three new beta-thalassemia mutations with varying degrees of severity.Semantic proximity Read ↗

Hb Filottrano [codon 120 (-A)]: a novel frameshift mutation in exon 3 of the β-globin gene causing dominantly inherited β-thalassemia intermedia.Semantic proximity Read ↗

Two novel mutations in the 3' untranslated region of the beta-globin gene that are associated with the mild phenotype of beta thalassemia.Semantic proximity Read ↗

Heterozygous beta-thalassemia with thalassemia intermedia phenotype.Semantic proximity Read ↗

First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain.Semantic proximity Read ↗

Dominantly transmitted beta-thalassemia arising from the production of several aberrant mRNA species and one abnormal peptide.Semantic proximity Read ↗

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