An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene
Détails
ID Serval
serval:BIB_6CF8178585D4
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene
Périodique
Human Molecular Genetics
ISSN
0964-6906 (Print)
Statut éditorial
Publié
Date de publication
07/1994
Volume
3
Numéro
7
Pages
1201
Notes
Case Reports
Journal Article --- Old month value: Jul
Journal Article --- Old month value: Jul
Mots-clé
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
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
20/08/2019 15:26
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