A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. [electronic resource]
- Journal of child neurology Dec 2008
- 1433-8 p. digital
Publication Type: Journal Article
1708-8283
10.1177/0883073808320754 doi
Adult Black or African American Arginine--genetics Child Child, Preschool Chromosomes, Human, Pair 5 DNA Mutational Analysis--methods Family Health Female Humans Male Middle Aged Muscle Hypertonia--genetics Mutation Phenotype Proline--genetics Receptors, Glycine--genetics Reflex, Abnormal--genetics