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A novel splice site mutation c.2278 (−1) G>C in the TMPRSS6 gene causes deletion of the substrate binding site of the serine protease resulting in refractory iron deficiency anaemia
Author(s) -
Edison Eunice S.,
Athiyarath Rekha,
Rajasekar Thirugnanam,
Westerman Mark,
Srivastava Alok,
Chandy Mammen
Publication year - 2009
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/j.1365-2141.2009.07879.x
Subject(s) - tmprss6 , mutation , serine , serine protease , splice site mutation , binding site , chemistry , genetics , gene , biology , microbiology and biotechnology , rna splicing , biochemistry , protease , enzyme , rna