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

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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
UNIL/CHUV
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)
ISSN-L
0964-6906
Publication state
Published
Issued date
07/1994
Peer-reviewed
Oui
Volume
3
Number
7
Pages
1201
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Keywords
Adolescent, Codon/genetics, Female, Genes, Humans, Male, Myoclonus/genetics, Pedigree, Point Mutation, Polymerase Chain Reaction, Receptors, Glycine/genetics, Reflex, Abnormal/genetics, Reflex, Startle/genetics
OAI-PMH
oai:serval.unil.ch:BIB_6CF8178585D4
DOI
10.1093/hmg/3.7.1201
Pubmed
7981700
Web of science
A1994NX34100036
Create date
28/01/2008 13:59
Last modification date
18/05/2024 6:59
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