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

Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.

The Medical journal of Malaysia - 1 Sept 1993

George E, George R, Ariffin W A, Mokhtar A B, Azman Z A, Sivagengei K

Abstract excerpt

The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective and rapid method for the identification of the beta-thalassaemia mutations. Six different mutations were detected....

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to beta-Thalassemia

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

Share to Child, Preschool

Share to Molecular Sequence Data

Share to Mutation

Share to Polymerase Chain Reaction

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 8183146

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

Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.PMID 8183146Read ↗

The use of the amplification refractory mutation system (arms) in the detection of rare beta-thalassemia mutations in the Malays and Chinese in Malaysia.Semantic proximity Read ↗

Prenatal diagnosis of beta-thalassaemia: experience in a developing country.Semantic proximity Read ↗

Molecular defects in beta-thalassaemias in the population of Saudi Arabia.Semantic proximity Read ↗

Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience.Semantic proximity Read ↗

Detection of beta-globin gene mutations among Kelantan Malay thalassaemia patients by polymerase chain reaction restriction fragment length polymorphism.Semantic proximity Read ↗

The use of Taqman genotyping assays for rapid confirmation of β-thalassaemia mutations in the Malays: accurate diagnosis with low DNA concentrations.Semantic proximity Read ↗

Characterisation and confirmation of rare beta-thalassaemia mutations in the Malay, Chinese and Indian ethnic groups in Malaysia.Semantic proximity Read ↗

Characterisation of beta-globin gene mutations in Malaysian children: a strategy for the control of beta-thalassaemia in a developing country.Semantic proximity Read ↗

The spectrum of beta-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis.Semantic proximity Read ↗

Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK.Semantic proximity Read ↗

Study of beta-Thalassemia mutations using the polymerase chain reaction-amplification refractory mutation system and direct DNA sequencing techniques in a group of Egyptian Thalassemia patients.Semantic proximity Read ↗

Detection of beta-thalassemia mutations using a multiplex amplification refractory mutation system assay.Semantic proximity Read ↗

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