Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis

BACKGROUND—Hereditary spastic paraparesis is a genetically heterogeneous condition. Recently, mutations in the spastin gene were reported in families linked to the common SPG4 locus on chromosome 2p21-22.
OBJECTIVES—To study a population of patients with hereditary spastic paraparesis for mutations...

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Hlavní autoři: Lindsey, J, Lusher, M, McDermott, C, White, K, Reid, E, Rubinsztein, D, Bashir, R, Hazan, J, Shaw, P, Bushby, K
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2000
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Original Articles
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1757167/
https://ncbi.nlm.nih.gov/pubmed/11015453
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.10.759
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