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

Abstract

Type Journal
ISBN 1468-6244 (Electronic)
Authors Kwok, J. B.;Raskin, S.;Morgan, G.;Antoniuk, S. A.;Bruk, I.;Schofield, P. R. :
Publisher Name JOURNAL OF MEDICAL GENETICS
Published Date 2001-01-01
Published Volume 38
Published Issue 6
Published Pages E17
Status Published in-print
URL link to publisher's version http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=11389164
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/1475