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
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
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 13:59
Last modification date
20/08/2019 15:26
Usage data
