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A Novel Nonsense Mutation in FERMT3 Causes LAD-III in a Pakistani Family
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 is highly expressed in l...
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| Publicado no: | Front Genet |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Frontiers Media S.A.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6491447/ https://ncbi.nlm.nih.gov/pubmed/31068971 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00360 |
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