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...

Descripción completa

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

Internet

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

Ejemplares similares