Thalassemia: recent insights into molecular mechanisms.
Recent advances in defining the molecular basis for the thalassemia syndromes are discussed. We now realize that the causes of the thalassemia phenotype are diverse and include gene deletions, nuclear RNA processing defects, nonsense mutations, fusion genes, termination codon mutants, and unstable globin chains.
D000818:Animals; D002520:Cercopithecidae; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005914:Globins / Q000096:biosynthesis / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics; D006801:Humans; D010641:Phenotype; D011487:Protein Conformation; D011995:Recombination, Genetic; D013789:Thalassemia / Q000097:blood* / Q000235:genetics* / Q000401:mortality; D014158:Transcription, Genetic
D006455:Hemoglobins, Abnormal; D005914:Globins; D004262:DNA Restriction Enzymes