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...
Uloženo v:
| Hlavní autoři: | , , , , , , |
|---|---|
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Elsevier
2020-02-01
|
| Edice: | Journal of Microbiology, Immunology and Infection |
| On-line přístup: | http://www.sciencedirect.com/science/article/pii/S1684118218300495 |
| Tagy: |
Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!
|