Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation
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چکیده
منابع مشابه
Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro.
In the disorder leukocyte adhesion deficiency III (LAD-III), integrins on platelets and leukocytes are expressed but fail to function and this leads to severe bleeding and infections at an early age. Mutation in the KINDLIN3 (FERMT3) gene is the cause of LAD-III in patients from the Middle East, Malta, and Turkey. We describe 2 novel homozygous mutations in the KINDLIN3 gene of a new African-Am...
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ژورنال
عنوان ژورنال: Nature Medicine
سال: 2009
ISSN: 1078-8956,1546-170X
DOI: 10.1038/nm.1931