PMID: 2111640Jan 1, 1990Paper

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

Brain & Development
A FerliniA Forabosco

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.

References

Jan 1, 1986·American Journal of Medical Genetics. Supplement·J W MooreG H Thomas
Jan 1, 1986·American Journal of Medical Genetics. Supplement·G RomeoM Rocchi
Apr 1, 1984·Proceedings of the National Academy of Sciences of the United States of America·G M Church, W Gilbert

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Citations

Aug 1, 1993·European Journal of Clinical Chemistry and Clinical Biochemistry : Journal of the Forum of European Clinical Chemistry Societies·D Kunze, B Rüstow
Dec 1, 1992·Clinical Genetics·M H Kormann-BortolottoT Webb

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