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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia
Hereditary spastic paraplegia (HSP) is a genetically and clinically heterogeneous disease characterized by spasticity and weakness of the lower limbs with or without additional neurological symptoms. Although more than 70 genes and genetic loci have been implicated in HSP, many families remain genet...
Tallennettuna:
| Julkaisussa: | Am J Hum Genet |
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| Päätekijät: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Elsevier
2016
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4863665/ https://ncbi.nlm.nih.gov/pubmed/27153400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.04.002 |
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