Article
Clinical and genetic study of a novel mutation in the REEP1 gene.
Synapse (New York, N.Y.) - 1 Mar 2009
Liu Shi Guo, Che Feng Yuan, Heng Xue Yuan, Li Fei Feng, Huang Shang Zhi, Lu De Guo, Hou Su Jun, Liu Shi En, Wang Qiang, Wang Hai Ping, Ma Xu
Abstract excerpt
OBJECTIVE: To examine the gene mutation associated with clinical phenotype from a Chinese kindred with autosomal dominant hereditary spastic paraplegia (ADHSP). METHOD: To perform linkage analysis and mutation detection. For two affected individual of the family, clinical analysis, electrophysiological examination, and MRI of brain and spinal cord were also performed. RESULT: A novel splice-site mutation (REEP1...
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