» Articles » PMID: 6280057

Linkage of Beta-thalassaemia Mutations and Beta-globin Gene Polymorphisms with DNA Polymorphisms in Human Beta-globin Gene Cluster

Overview
Journal Nature
Specialty Science
Date 1982 Apr 15
PMID 6280057
Citations 257
Authors
Affiliations
Soon will be listed here.
Citing Articles

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.

Bertoli-Avella A, Radefeldt M, Al-Ali R, Pardo L, Lemke S, Leubauer A Eur J Hum Genet. 2025; .

PMID: 39870877 DOI: 10.1038/s41431-025-01792-2.


Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases.

Pena-Martinez E, Rodriguez-Martinez J Front Biosci (Schol Ed). 2024; 16(1):4.

PMID: 38538340 PMC: 11044903. DOI: 10.31083/j.fbs1601004.


Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/beta-thalassemia.

Oliveira E, Rolim Belisario A, Silva N, Rezende P, Muniz M, Oliveira L Hematol Transfus Cell Ther. 2024; 46(2):167-175.

PMID: 38182466 PMC: 11150486. DOI: 10.1016/j.htct.2023.11.002.


To Study the β-Globin Haplotype Pattern of Descent of a Set of Linked Alleles Occurring on the Same Chromosome in the Northern Province of India.

Nigam N, Sinha S, Verma N, Gupta H, Fatima G, Gupta S Cureus. 2023; 15(3):e36569.

PMID: 37095793 PMC: 10122190. DOI: 10.7759/cureus.36569.


SCN1A: bioinformatically informed revised boundaries for promoter and enhancer regions.

Pagni S, Martins Custodio H, Frankish A, Mudge J, Mills J, Sisodiya S Hum Mol Genet. 2023; 32(10):1753-1763.

PMID: 36715146 PMC: 10162429. DOI: 10.1093/hmg/ddad015.