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A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.
A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Controlling hypertension and reducing its associated morbidity and mortality in the Caribbean: implications of race and ethnicity.
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A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype.
A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. J Child Neurol. 2008 Dec; 23(12):1433-8.
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PubMed
subject areas
Adult
Arginine
Child
Child, Preschool
Chromosomes, Human, Pair 5
DNA Mutational Analysis
Family Health
Female
Humans
Male
Middle Aged
Muscle Hypertonia
Mutation
Phenotype
Proline
Receptors, Glycine
Reflex, Abnormal
authors with profiles
Kenton R. Holden