Brain Dev. 1990;12(1):136-9.

Molecular analysis of the Rett syndrome using cDNA synapsin I as a probe.

Ferlini A, Ansaloni L, Nobile C, Forabosco A.

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Cattedra di Istologia ed Embriologia Generale, Modena University, Italy.

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.

PMID:: 2111640; [PubMed - indexed for MEDLINE]

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Molecular analysis of synapsin I, a candidate gene for Rett syndrome. [Brain Dev. 1987]
Molecular analysis of synapsin I, a candidate gene for Rett syndrome.
DeGennaro LJ, McCaffery CA, Kirchgessner CU, Yang-Feng TL, Francke U. Brain Dev. 1987; 9(5):469-74.
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Review Molecular approaches to the Rett syndrome gene.
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