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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
|---|---|
| Μορφή: | Artigo |
| Γλώσσα: | Espanhol |
| Έκδοση: |
Elsevier España
2025-01-01
|
| Σειρά: | Neurología |
| Θέματα: | |
| Διαθέσιμο Online: | http://www.sciencedirect.com/science/article/pii/S0213485322001062 |
| Ετικέτες: |
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!
|