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Acta Haematol (1991) 85 (2): 79–87.
Published Online: 20 February 2009
..., Augusta, Ga., USA Key Words. Ay Promoters (3s Chromosomes Deletions Gy Promoters Haplotypes Point mutations Abstract. In this paper we describe the distribution of some specific sequence differences in the 5' flanking regions of the Ay- and °y-globin genes from 100 Black adult and 57 newborn SS...
Acta Haematol (1995) 94 (Suppl. 1): 49–52.
Published Online: 18 February 2009
... exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor development in family members carrying missense mutations was virtually zero. Deletions Exon Factor IX Hemophilia B Inhibitors Missense mutations Nonsense mutations Acta Haematol...
Acta Haematol (1996) 96 (3): 162–169.
Published Online: 17 February 2009
...) mutation and the CDs 134-137 insertion/deletion. Normal α/(γ+β) values were seen in 3 heterozygotes each with a different deletion involving part of the β -globin gene. The presence of the silent β -thal allele, -101 (C→T), in trans to a CD 8 (-AA) allele has a minor effect on the α/β-mRNA ratio. The α/β...