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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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Bibliografische gegevens
Hoofdauteurs: Alazami, Anas M., Adly, Nouran, Al Dhalaan, Hisham, Alkuraya, Fowzan S.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Springer-Verlag 2011
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Online toegang: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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