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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Bibliografski detalji
Izdano u:Am J Hum Genet
Glavni autori: Reid, Evan, Kloos, Mark, Ashley-Koch, Allison, Hughes, Lori, Bevan, Simon, Svenson, Ingrid K., Graham, Felicia Lennon, Gaskell, Perry C., Dearlove, Andrew, Pericak-Vance, Margaret A., Rubinsztein, David C., Marchuk, Douglas A.
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2002
Teme:
Report
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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