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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Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: The American Society of Human Genetics 2002
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC385095/
https://ncbi.nlm.nih.gov/pubmed/12355402
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