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 heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations.

British journal of haematology - 1 Jan 1990

Fucharoen S, Katsube T, Fucharoen G, Sawada H, Oishi H, Katsuno M, Nishimura J, Motomura S, Miura Y, Fukumaki Y

Abstract excerpt

Five unrelated Japanese beta-thalassaemia genes, from one homozygote and four heterozygotes, have been systematically characterized using DNA polymorphism analysis, polymerase chain reaction, dot-blot hybridization and direct sequencing of amplified genomic DNA. Four different molecular defects were observed on three different beta-globin gene frameworks. One of these, the A----G mutation in the TATA box, a...

Read the complete abstract on PubMed

Topics

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

Share to Genes
Share to Globins
Share to Immunoblotting

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

Share to Mutation

Share to Polymerase Chain Reaction

Share to Thalassemia

Source

Identifiers

PMID: 2310691
DOI: 10.1111/j.1365-2141.1990.tb02545.x

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 · 9 closest

Molecular heterogeneity of beta-thalassaemia in the Japanese: identification of two novel mutations.PMID 2310691Read ↗

Molecular basis of beta-thalassemia in Japan: heterogeneity and origins of mutations.Semantic proximity Read ↗

Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient.Semantic proximity Read ↗

The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation.Semantic proximity Read ↗

Molecular characterization of beta-thalassaemia in 174 Greek patients with thalassaemia major.Semantic proximity Read ↗

Molecular heterogeneity of beta-thalassemia in Thailand.Semantic proximity Read ↗

Molecular heterogeneity of beta-thalassaemia in Malaysia: a practical approach to diagnosis.Semantic proximity Read ↗

A common Chinese beta-thalassemia mutation found in a Japanese family.Semantic proximity Read ↗

Three beta-thalassemia mutations in the Japanese: IVS-II-1 (G----A), IVS-II-848 (C----G), and codon 90 (GAG----TAG).Semantic proximity Read ↗

Gene screening in Japanese families with complete deficiency of thyroxine-binding globulin demonstrates that a nucleotide deletion at codon 352 may be a race specific mutation.Semantic proximity Read ↗

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