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A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Hereditary Spastic Paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported auto...

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Detalhes bibliográficos
Main Authors: Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer-Verlag 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3215864/
https://ncbi.nlm.nih.gov/pubmed/21796390
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10048-011-0291-8
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