β-Thalassemia Major Resulting from Compound Heterozygosity forHBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a Novel β0-Thalassemia Frameshift Mutation:HBB: c.209delG; p.Gly70Valfs*20
Author:
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
http://www.tandfonline.com/doi/pdf/10.3109/03630269.2014.931286
Reference5 articles.
1. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
2. Hb Cambridge-MA [β144(HC1)-β146(HC3)Lys-Tyr-His→0 (HBB c.433 A>T)]: A New High Oxygen Affinity Variant
3. A Novel β0-Thalassemia Frameshift Mutation: [HBB:c.216delT]
4. Compound heterozygote condition in beta thalassemia major due to a novel single nucleotide deletion (-T) at codon 69 in association with IVS 1-5 (G>C) mutation
5. A novel frameshift mutation at codon 66 (HBB:c.del201A) in the β-globin gene leads to beta-thalassemia
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