Article
A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2.
European journal of human genetics : EJHG - 1 Oct 2000
Lo Nigro C, Cusano R, Scaranari M, Cinti R, Forabosco P, Morra V B, De Michele G, Santoro L, Davies S, Hurst J, Devoto M, Ravazzolo R, Seri M
Abstract excerpt
Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disorder characterised by progressive spasticity of the lower limbs. Beside 'pure' forms of HSP, 'complicated' forms are reported, where spasticity occurs associated with additional symptoms. We recently described an Italian family with a complicated dominant form of HSP (SPG9) and we mapped the gene responsible to 10q23.3-q24.2, in a 12cM...
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