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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...
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| Publicado no: | Hum Genome Var |
|---|---|
| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | 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 |
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