Linked Life Data

17534957

Source:http://linkedlifedata.com/resource/pubmed/id/17534957

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
11
pubmed:dateCreated
2007-9-5
pubmed:abstractText
We report the identification of a novel Y228C mutation within the M1 trans-membrane domain of the GLRA1 subunit of the glycine receptor responsible for a severe recessive hyperekplexia phenotype in a Kurdish pedigree.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0885-3185
pubmed:author
pubmed:copyrightInfo
Copyright (c) 2007 Movement Disorder Society.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
22
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1643-5
pubmed:meshHeading
pubmed:year
2007
pubmed:articleTitle
A novel GLRA1 mutation in a recessive hyperekplexia pedigree.
pubmed:affiliation
Sir James Spence Institute, Royal Victoria Infirmary, Newcastle University, Newcastle upon Tyne NE1 4LP, and Paediatric Neurology Department, St George's Hospital, London, United Kingdom. r.j.forsyth@newcastle.ac.uk
pubmed:publicationType
Journal Article, Case Reports