A novel globin structural mutant, Showa-Yakushiji (beta 110 Leu-Pro) causing a beta-thalassemia phenotype [PDF]
Y Kobayashi+5 more
openalex +1 more source
Molecular basis and prenatal diagnosis of beta-thalassemia [PDF]
HH Jr Kazazian, C D Boehm
openalex +1 more source
Renal tubular dysfunction with nephrocalcinosis in a patient with beta thalassemia minor
Thalassemia is a hereditary anemia resulting from defect in hemoglobin production. Beta thalassemia is due to impaired production of beta globin chains, leading to a relative excess of alpha globin chains.
Prabahar Murugesan+4 more
doaj
Demonstration of non-functional beta-globin mRNA in homozygous beta (0) thalassemia.
Y Kan+3 more
openalex +1 more source
beta zero thalassemia in Sardinia is caused by a nonsense mutation. [PDF]
Richard F. Trecartin+7 more
openalex +1 more source
Hemoglobin F and Beta Thalassemia [PDF]
Thomas G. Gabuzda+4 more
openaire +3 more sources
Sodium butyrate enhances fetal globin gene expression in erythroid progenitors of patients with Hb SS and beta thalassemia [PDF]
SP Perrine+7 more
openalex +1 more source
Background: Heart disease is the main cause of mortality and morbidity in patients with beta thalassemia, rendering its early diagnosis vital. We studied and compared echocardiographic findings in patients with beta thalassemia major, patients with beta ...
Noormohammad Noori+5 more
doaj
Beta Thalassemia and Translation of Globin Messenger RNA
David G. Nathan+3 more
openalex +1 more source
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. [PDF]
Peter Curtin+5 more
openalex +1 more source