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20450309
Source:
http://linkedlifedata.com/resource/pubmed/id/20450309
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51
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0028738
,
umls-concept:C0030761
,
umls-concept:C0205314
,
umls-concept:C0241764
,
umls-concept:C0679622
,
umls-concept:C1442161
,
umls-concept:C1744681
,
umls-concept:C1825315
pubmed:issue
2
pubmed:dateCreated
2010-5-10
pubmed:abstractText
To identify the disease-causing mutation in a large 3 generation pedigree of X-linked congenital nystagmus.
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9436057
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Cytoskeletal Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/FRMD7 protein, human
,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1744-5094
pubmed:author
pubmed-author:EyestoneMari EME
,
pubmed-author:FingertJohn HJH
,
pubmed-author:MellotMei LML
,
pubmed-author:PhamJoshua DJD
,
pubmed-author:RoosBenB
,
pubmed-author:StoneEdwinE
pubmed:issnType
Electronic
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
77-80
pubmed:meshHeading
pubmed-meshheading:20450309-Amino Acid Substitution
,
pubmed-meshheading:20450309-Cytoskeletal Proteins
,
pubmed-meshheading:20450309-DNA Mutational Analysis
,
pubmed-meshheading:20450309-Exons
,
pubmed-meshheading:20450309-Female
,
pubmed-meshheading:20450309-Gene Deletion
,
pubmed-meshheading:20450309-Genetic Diseases, X-Linked
,
pubmed-meshheading:20450309-Humans
,
pubmed-meshheading:20450309-Male
,
pubmed-meshheading:20450309-Membrane Proteins
,
pubmed-meshheading:20450309-Mutation
,
pubmed-meshheading:20450309-Nystagmus, Congenital
,
pubmed-meshheading:20450309-Pedigree
,
pubmed-meshheading:20450309-Polymerase Chain Reaction
pubmed:year
2010
pubmed:articleTitle
Novel intragenic FRMD7 deletion in a pedigree with congenital X-linked nystagmus.
pubmed:affiliation
Department of Ophthalmology and Visual Sciences, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA. john-fingert@uiowa.edu
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't