Carregant...
Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation
Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant and ‘pure' forms of HSP account for ∼80% of cases in Western societies of whom 10% carry atlastin-1 (ATL1) gene mutations...
Guardat en:
| Autors principals: | , , , , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group
2014
|
| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4169543/ https://ncbi.nlm.nih.gov/pubmed/24473461 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.5 |
| Etiquetes: |
Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|