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Beta thalassaemia intermedia due to co‐inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis
Author(s) -
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
Publication year - 2018
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/bjh.14294
Subject(s) - proband , gene duplication , genetics , asymptomatic , mutation , medicine , biology , gene