A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing
Background: Patients with severe combined immunodeficiency (SCID), which is caused by genetic defects in immune-related genes involved in the development or activation of the adaptive immune system, often died in infancy due to severe infections before definite molecular diagnosis could be made. Alt...
Guardat en:
| Autors principals: | , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Elsevier
2020-02-01
|
| Col·lecció: | Journal of Microbiology, Immunology and Infection |
| Accés en línia: | http://www.sciencedirect.com/science/article/pii/S1684118218300495 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|