A variant in GRN of Spanish origin presenting with heterogeneous phenotypes
Introduction: The variant c.1414-1G>T in the GRN gene has previously been reported as probably pathogenic in subjects of Hispanic origin in the American continent. Methods: We report 5 families of Spanish origin carrying this variant, including the clinical, neuroimaging, and laboratory findings. Re...
Shranjeno v:
| Principais autores: | , , , , |
|---|---|
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier España
2025-01-01
|
| Serija: | Neurología (English Edition) |
| Teme: | |
| Online dostop: | http://www.sciencedirect.com/science/article/pii/S2173580822001122 |
| Oznake: |
Brez oznak, prvi označite!
|