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A nonsense variant in the Hexokinase 1 gene ( HK 1 ) causing severe non‐spherocytic haemolytic anaemia: genetic analysis exemplifies ambiguity due to multiple Isoforms
Author(s) -
Jamwal Manu,
Aggarwal Anu,
Palodi Arindam,
Sharma Prashant,
Bansal Deepak,
Maitra Arindam,
Das Reena
Publication year - 2019
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.15981
Subject(s) - gene isoform , nonsense mediated decay , hexokinase , gene , ambiguity , nonsense , genetics , biology , nonsense mutation , mutation , enzyme , biochemistry , glycolysis , missense mutation , rna , rna splicing , linguistics , philosophy
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