A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
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Publisher
New York: Springer US
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Language
English
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Publisher
New York: Springer US
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Scope and Contents
Contents
Leukocyte adhesion deficiency-III (LAD-III) is an extremely rare autosomal recessive syndrome caused by mutations in
FERMT3
, the gene encoding kindlin-3. The genetic alterations in this gene lead to abnormal expression or activity of kindlin-3 in leukocytes and platelets. Kindlin-3 acts as an important regulator of integrin activation. LAD-I...
Alternative Titles
Full title
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
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TN_cdi_proquest_miscellaneous_3153165757
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_3153165757
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ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-022-01420-4
