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ADA‐SCID with ‘WAZA‐ARI’ mutations that synergistically abolished ADA protein stability
Author(s) -
Okura Yuka,
Yamada Masafumi,
Kobayashi Ichiro,
Santisteban Ines,
ArredondoSantisteban Gabriella,
Kato Zenichiro,
Iguchi Akihiro,
Yoshida Makoto,
Ohara Osamu,
Nakagawa Noriko,
Imai Kohsuke,
Hershfield Michael S.,
Ariga Tadashi
Publication year - 2011
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.1365-2141.2011.08640.x
Subject(s) - missense mutation , adenosine deaminase , severe combined immunodeficiency , adenosine deaminase deficiency , immunodeficiency , failure to thrive , nonsense mutation , primary immunodeficiency , medicine , lymphocyte , mutation , allele , biology , genetics , immunology , gene , immune system , adenosine