An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene

Details

Serval ID
serval:BIB_6CF8178585D4
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene
Journal
Human Molecular Genetics
Author(s)
Schorderet  D. F., Pescia  G., Bernasconi  A., Regli  F.
ISSN
0964-6906 (Print)
Publication state
Published
Issued date
07/1994
Volume
3
Number
7
Pages
1201
Notes
Case Reports
Journal Article --- Old month value: Jul
Keywords
Adolescent Codon/genetics Female Genes Humans Male Myoclonus/*genetics Pedigree *Point Mutation Polymerase Chain Reaction Receptors, Glycine/*genetics Reflex, Abnormal/*genetics Startle Reaction/*genetics
Pubmed
Web of science
Create date
28/01/2008 12:59
Last modification date
20/08/2019 14:26
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