Detection of the HB Quong SZE Mutation in a Chinese Family by Selective Amplification of the α2-Globin Gene and Restriction Map Analysis with MSP I
Author:
Publisher
Informa UK Limited
Subject
Biochemistry (medical),Clinical Biochemistry,Genetics (clinical),Hematology
Link
http://www.tandfonline.com/doi/pdf/10.3109/03630269109027901
Reference7 articles.
1. Globin structural mutant α125Leu→Pro is a novel cause of α-thalassaemia
2. alpha-Thalassemia caused by an unstable alpha-globin mutant.
3. Boundaries of gene conversion within the duplicated human alpha-globin genes. Concerted evolution by segmental recombination.
4. Selective enzymatic amplification of alpha 2-globin DNA for detection of the hemoglobin Constant Spring mutation
5. Human embryonic zeta-globin chains in adult patients with alpha-thalassemias.
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1. A rare case of Hb H disease caused by compound heterozygous for α thalasemia and Hb Quong Sze in Chinese Indonesian proband: a case report;Bali Medical Journal;2019-08-01
2. First Case of a Compound Heterozygosity for Two Nondeletionalα-Thalassemia mutations, Hb Constant Spring and Hb Quong Sze;Hemoglobin;2016-03-09
3. Screening and Diagnosis of Hb Quong Sze [HBA2: c.377T > C (orHBA1)] in a Prenatal Control Program for Thalassemia;Hemoglobin;2014-05-14
4. Screening for Common Nondeletional α-Thalassemias in Chinese Newborns by Determination of Hb Bart’s Using the Sebia Capillarys 2 Electrophoresis System;Hemoglobin;2012-01-12
5. Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze;Annals of Hematology;2009-03-04
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