Wordt geladen...
A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
Spastic paraplegia (SPG) type 4 is an autosomal dominant SPG caused by functional variants in the SPAST gene. We examined a Japanese family with three autosomal dominant SPG patients. These patients presented with typical symptoms of SPG, such as spasticity of the lower limbs. We identified a rare n...
Bewaard in:
| Gepubliceerd in: | Hum Genome Var |
|---|---|
| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Nature Publishing Group UK
2021
|
| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8149642/ https://ncbi.nlm.nih.gov/pubmed/34035234 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00153-x |
| Tags: |
Voeg label toe
Geen labels, Wees de eerste die dit record labelt!
|