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|Title:||A novel DO*01 silent allele associated with a nucleotide insertion in a Brazilian patient with anti‐Gya|
|Author:||Bub, Carolina Bonet|
Aravechia, Maria Giselda
Santos, Leandro Dinalli dos
Vendrame, Tatiane A. P.
Kutner, José Mauro
|Abstract:||Dombrock blood group system has 10 antigens being two antithetical and eight antigens of high prevalence attached to the outer surface of the red blood cell (RBC) membrane through a glycosylphosphatidylinositol (GPI)‐linked glycoprotein of 314 amino acids.1 The Donull [Gy(a–)] phenotype has been reported to be associated with both DO*01 and DO*02 alleles as a result of exon deletion, nonsense mutation, nucleotide deletion, and missense mutation. To date, seven DO null alleles have been reported.2 Here we describe a new DO*01 silent allele in a Brazilian patient, caused by a c.728_729insG nonsense mutation, leading to a Gy(a–) phenotype|
|Appears in Collections:||HEMO - Artigos e Outros Documentos|
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