Article
Detection of RASA1 mutations in patients with sporadic Sturge-Weber syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Apr 2011
Zhou Qin, Zheng Jia-wei, Yang Xiu-juan, Wang Hui-jun, Ma Duan, Qin Zhong-ping
Abstract excerpt
OBJECTIVE: The aim of this study was to identify RASA1 mutation in Chinese population with sporadic Sturge-Weber syndrome (SWS). METHODS: Genomic DNA was obtained from peripheral blood of nine patients with sporadic SWS. The 25 exons, promoter regions (-1,000 bp) as well as intron-exon boundaries of RASA1 were amplified by polymerase chain reaction, and products were sequenced directly. RESULTS: A novel...
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