Carregant...
SQSTM1 mutation: Description of the first Tunisian case and literature review
BACKGROUND: Mutations in SQSTM1 gene have been recently identified as a rare cause of progressive childhood neurodegenerative disorder. So far, only 25 patients from 10 unrelated families were reported. METHODS AND RESULTS: We report on the first Tunisian case of an 11‐year‐old girl with cerebellar...
Guardat en:
| Publicat a: | Mol Genet Genomic Med |
|---|---|
| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2020
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7767559/ https://ncbi.nlm.nih.gov/pubmed/33135846 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1543 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|