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

Dominantly Inherited beta-Thalassemia.

Hemoglobin - 1 Jan 2007

Efremov Georgi D

Abstract excerpt

Dominantly inherited beta-thalassemia (thal) or "inclusion body beta-thalassemias" are heterogeneous at the molecular level and are due to mutations at or near the beta-globin gene locus. Many of these involve mutations of exon 3 of the beta-globin gene. They include frameshifts, premature chain termination (nonsense) mutations, and complex rearrangements that lead to the synthesis of truncated or elongated and...

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 beta-Thalassemia
Share to Child, Preschool

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

Share to Genes, Dominant

Share to Globins

Share to Infant

Source

Identifiers

PMID: 17486503
DOI: 10.1080/03630260701290092

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

Dominantly Inherited beta-Thalassemia.PMID 17486503Read ↗

Hb Stara Zagora: a new hyper-unstable hemoglobin causing severe hemolytic anemia.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 ↗

Beta-, delta beta-thalassemia and Hb lepore among Yugoslav, Bulgarian, Turkish and Albanian.Semantic proximity Read ↗

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 ↗

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

Molecular analysis of atypical beta-thalassemia heterozygotes.Semantic proximity Read ↗

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

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

Hb Jambol: a new hyperunstable hemoglobin causing severe hemolytic anemia.Semantic proximity Read ↗

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

Homozygosity for nondeletion delta-beta(0) thalassemia resulting in a silent clinical phenotype.Semantic proximity Read ↗

Gap-PCR Screening for Common Large Deletional Mutations of β-Globin Gene Cluster Revealed a Higher Prevalence of the Turkish Inversion/Deletion (δβ)0 Mutation in Antalya.Semantic proximity Read ↗

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