Cargando…
Diagnostics of Primary Immunodeficiency Diseases: A Sequencing Capture Approach
Primary Immunodeficiencies (PID) are genetically inherited disorders characterized by defects of the immune system, leading to increased susceptibility to infection. Due to the variety of clinical symptoms and the complexity of current diagnostic procedures, accurate diagnosis of PID is often diffic...
Autores principales: | Moens, Lotte N., Falk-Sörqvist, Elin, Asplund, A. Charlotta, Bernatowska, Ewa, Smith, C. I. Edvard, Nilsson, Mats |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4263707/ https://www.ncbi.nlm.nih.gov/pubmed/25502423 http://dx.doi.org/10.1371/journal.pone.0114901 |
Ejemplares similares
-
Automated Genotyping of Biobank Samples by Multiplex Amplification of Insertion/Deletion Polymorphisms
por: Mathot, Lucy, et al.
Publicado: (2012) -
The patients’ organisations of children with primary immunodeficiency in Poland
por: Bernatowska, Ewa, et al.
Publicado: (2010) -
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene
por: Lundin, Karin E., et al.
Publicado: (2015) -
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
por: Gallo, Vera, et al.
Publicado: (2016) -
Primary Immunodeficiencies and Hematologic Malignancies: A Diagnostic Approach
por: Chandra, Sharat, et al.
Publicado: (2022)