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A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)
We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant asparagine residue that, when mutated in or...
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| Izdano u: | Am J Hum Genet |
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| Glavni autori: | , , , , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Elsevier
2002
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC385095/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12355402/ https://ncbi.nlm.nih.govhttps://doi.org/10.1086/344210 |
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