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12882812
Source:
http://linkedlifedata.com/resource/pubmed/id/12882812
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Statements in which the resource exists as a subject.
Predicate
Object
rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0026882
,
umls-concept:C0035334
,
umls-concept:C0332281
,
umls-concept:C1419605
,
umls-concept:C1515568
pubmed:issue
8
pubmed:dateCreated
2003-7-28
pubmed:abstractText
The Arg677ter mutation in the RP1 gene is one of the most common causes of autosomal dominant retinitis pigmentosa (RP). In the current study, a de novo Arg677ter RP1 gene mutation was identified in a patient with RP.
pubmed:grant
http://linkedlifedata.com/resource/pubmed/grant/EY-13203
,
http://linkedlifedata.com/resource/pubmed/grant/EY-13385
,
http://linkedlifedata.com/resource/pubmed/grant/EY-13729
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/7703701
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/RP1 protein, human
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0146-0404
pubmed:author
pubmed-author:AlemanTomas STS
,
pubmed-author:CideciyanArtur VAV
,
pubmed-author:JacobsonSamuel GSG
,
pubmed-author:SchwartzSharon BSB
,
pubmed-author:StoneEdwin MEM
,
pubmed-author:SwaroopAnandA
pubmed:issnType
Print
pubmed:volume
44
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3593-7
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:12882812-Adult
,
pubmed-meshheading:12882812-DNA Mutational Analysis
,
pubmed-meshheading:12882812-Electroretinography
,
pubmed-meshheading:12882812-Eye Proteins
,
pubmed-meshheading:12882812-Female
,
pubmed-meshheading:12882812-Humans
,
pubmed-meshheading:12882812-Interferometry
,
pubmed-meshheading:12882812-Light
,
pubmed-meshheading:12882812-Male
,
pubmed-meshheading:12882812-Pedigree
,
pubmed-meshheading:12882812-Point Mutation
,
pubmed-meshheading:12882812-Polymorphism, Genetic
,
pubmed-meshheading:12882812-Psychophysics
,
pubmed-meshheading:12882812-Retina
,
pubmed-meshheading:12882812-Retinitis Pigmentosa
,
pubmed-meshheading:12882812-Tandem Repeat Sequences
,
pubmed-meshheading:12882812-Tomography
,
pubmed-meshheading:12882812-Visual Fields
pubmed:year
2003
pubmed:articleTitle
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.
pubmed:affiliation
Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
pubmed:publicationType
Journal Article
,
Research Support, U.S. Gov't, P.H.S.
,
Research Support, Non-U.S. Gov't