Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.
作者信息
Ferlini A, Ansaloni L, Nobile C, Forabosco A
机构信息
Cattedra di Istologia ed Embriologia Generale, Modena University, Italy.
出版信息
Brain Dev. 1990;12(1):136-9. doi: 10.1016/s0387-7604(12)80195-1.
PMID:2111640
Abstract
A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, the DNAs of six unrelated girls with the Rett Syndrome (RS) to test the hypothesis that mutations of the human synapsin I gene might cause RS. We found no alterations at the synapsin I (Syn I) locus in the vicinity of the probe sequence.
摘要
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引用本文的文献
1
X chromosome linkage studies in familial Rett syndrome.家族性瑞特综合征的X染色体连锁研究。
Hum Genet. 1993 Jan;90(5):551-5. doi: 10.1007/BF00217457.
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