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)
ISSN-L
0964-6906
Statut éditorial
Publié
Date de publication
07/1994
Peer-reviewed
Oui
Volume
3
Numéro
7
Pages
1201
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Publication Status: ppublish
Mots-clé
Adolescent, Codon/genetics, Female, Genes, Humans, Male, Myoclonus/genetics, Pedigree, Point Mutation, Polymerase Chain Reaction, Receptors, Glycine/genetics, Reflex, Abnormal/genetics, Reflex, Startle/genetics
Pubmed
Web of science
Création de la notice
28/01/2008 13:59
Dernière modification de la notice
18/05/2024 6:59
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