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

Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.

Journal of human genetics - 1 Jan 2004

Bashyam Murali Dharan, Bashyam Leena, Savithri Gorinabele R, Gopikrishna Munimanda, Sangal Vartul, Devi Akela Radha Rama

Abstract excerpt

beta-Thalassemia is the most prevalent single-gene disorder. Since no viable forms of treatment are available, the best course is prevention through prenatal diagnosis. In the present study, the prevalence of beta-thalassemia was extensively investigated in the South Indian population, especially from the state of Andhra Pradesh. Screening for causal mutations was carried out on genomic DNA isolated from patient...

Read the complete abstract on PubMed

Topics

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

Share to beta-Thalassemia
Share to DNA Mutational Analysis

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

Share to Gene Frequency

Share to Globins

Share to Heterozygote

Share to Homozygote

Share to Mutation

Source

Identifiers

PMID: 15278762
DOI: 10.1007/s10038-004-0169-9

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.PMID 15278762Read ↗

Distribution of beta-thalassemia mutations in the Indian population referred to a diagnostic center.Semantic proximity Read ↗

A comprehensive molecular characterization of beta thalassemia in a highly heterogeneous population.Semantic proximity Read ↗

Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.Semantic proximity Read ↗

Prenatal Diagnosis and Screening of Thalassemia Mutations in Bangladesh: Presence of Rare Mutations.Semantic proximity Read ↗

Regional heterogeneity of beta-thalassemia mutations in the multi ethnic Indian population.Semantic proximity Read ↗

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral centerSemantic proximity Read ↗

Mutation Spectrum of β-Globin Gene in Patients with β-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia.Semantic proximity Read ↗

Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.Semantic proximity Read ↗

Inherited hemoglobin disorders in Andhra Pradesh, India: a population study.Semantic proximity Read ↗

Hematological and molecular analysis of novel and rare beta-thalassemia mutations in the Indian population.Semantic proximity Read ↗

β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.Semantic proximity Read ↗

Identification of three novel mutations [-41 (A>C), codon 24 (-G), and IVS-I-109 (-T)], in a study of beta-thalassemia alleles in the Isfahan region of Iran.Semantic proximity Read ↗

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