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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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Detalles Bibliográficos
Autores principales:	Shahid, Saba, Zaidi, Samreen, Ahmed, Shariq, Siddiqui, Saima, Abid, Aiysha, Malik, Shabbir, Shamsi, Tahir
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2019
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6491447/ https://www.ncbi.nlm.nih.gov/pubmed/31068971 http://dx.doi.org/10.3389/fgene.2019.00360

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