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Title: beta 0 thalassemia, a nonsense mutation in man. Author: Chang JC, Kan YW. Journal: Proc Natl Acad Sci U S A; 1979 Jun; 76(6):2886-9. PubMed ID: 88735. Abstract: We determined the complete nucleotide sequence of the 5' noncoding region and the first 74 amino acids of the nonfunctional beta-globin mRNA in a patient with homozygous beta 0 thalassemia. We identified the molecular defect as a single nucleotide substitution in the coding region of the mRNA. At the position corresponding to amino acid 17, replacement of an adenine by a uracil changes the triplet AAG, which codes for lysine in the normal beta chain, to an amber termination codon, UAG. This type of beta 0 thalassemia represents an example of a nonsense mutation in man.[Abstract] [Full Text] [Related] [New Search]