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Mutations in the glycine receptor alpha1 subunit (GLRA1) gene in hereditary hyperekplexia pedigrees: evidence for non-penetrance of mutation Y279C

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Bibliographic Details
Published in:	Journal of medical genetics 2001-06, Vol.38 (6), p.E17
Main Authors:	Kwok, J B, Raskin, S, Morgan, G, Antoniuk, S A, Bruk, I, Schofield, P R
Format:	Article
Language:	English
Subjects:	Female Humans Infant, Newborn Male Muscle Hypotonia - genetics Mutation, Missense Pedigree Penetrance Receptors, Glycine - genetics Reflex, Startle - genetics
Online Access:	Get full text
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