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Novel deep intronic and missense UNC 13 D mutations in familial haemophagocytic lymphohistiocytosis type 3
Author(s) -
Entesarian Miriam,
Chiang Samuel C. C.,
Schlums Heinrich,
Meeths Marie,
Chan MeiYoke,
Mya SoeNwe,
Soh ShuiYen,
Nordenskjöld Magnus,
Henter JanInge,
Bryceson Yenan T.
Publication year - 2013
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.12371
Subject(s) - hemophagocytic lymphohistiocytosis , degranulation , missense mutation , medicine , immunology , hematopoietic stem cell transplantation , alemtuzumab , compound heterozygosity , mutation , transplantation , biology , genetics , disease , gene , antibody , receptor
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