A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
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DOI: 10.3389/fgene.2019.00360
Abstract: Leukocyte adhesion deficiency-III (LAD3) is an extremely rare primary immunodeficiency disorder, transmitted with autosomal-recessive inheritance. It is caused by genetic alteration in the FERMT3 gene, which leads to abnormal expression of kindlin-3. This cytoplasmic protein… read more here.
Keywords: novel nonsense; family novel; fermt3; family ... See more keywords