Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis

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Bibliographische Detailangaben
Veröffentlicht in:	British journal of haematology 2018-01, Vol.180 (1), p.160-164
Hauptverfasser:	Clark, Barnaby, Shooter, Claire, Smith, Frances, Brawand, David, Steedman, Laura, Oakley, Matthew, Rushton, Peter, Rooks, Helen, Wang, Xunde, Drousiotou, Anthi, Kyrri, Andriani, Hadjigavriel, Michael, Will, Andrew, Fisher, Chris, Higgs, Douglas R., Phylipsen, Marion, Harteveld, Cornelis, Kleanthous, Marina, Thein, Swee Lay
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles alpha globin (HBA) gene duplications alpha-Globins - genetics beta-Thalassemia - diagnosis beta-Thalassemia - genetics Blood diseases Gene Duplication Genetic Association Studies Genomics - methods Genotype Hematology Heredity High-Throughput Nucleotide Sequencing Humans Inheritance Patterns Multigene Family Mutation next generation sequencing non‐transfusion dependent thalassaemia Pedigree
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