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17515884
Source:
http://linkedlifedata.com/resource/pubmed/id/17515884
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Predicate
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rdf:type
pubmed:Citation
lifeskim:mentions
umls-concept:C0017612
,
umls-concept:C0026882
,
umls-concept:C0027341
,
umls-concept:C0205314
,
umls-concept:C0241888
,
umls-concept:C0679622
,
umls-concept:C1416890
,
umls-concept:C1868500
pubmed:dateCreated
2007-5-22
pubmed:abstractText
To describe the genetic and clinical findings in a large Spanish pedigree with nail-patella syndrome (NPS) and to investigate the expressivity of open angle glaucoma (OAG) in the family members.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10488864
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10571942
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10660670
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10767331
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10966502
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-11175791
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-11956244
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-11956245
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-12624132
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15021216
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15364705
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15652827
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15774843
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15928687
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-16825280
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-16973656
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-1957169
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-2643100
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-5537252
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7501017
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7585966
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7938009
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7974745
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-8981956
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9190203
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9323941
,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9590287
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9590288
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9618165
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http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9837817
pubmed:language
eng
pubmed:journal
http://linkedlifedata.com/resource/pubmed/journal/9605351
pubmed:citationSubset
IM
pubmed:chemical
http://linkedlifedata.com/resource/pubmed/chemical/Codon, Terminator
,
http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/LIM homeobox transcription factor...
,
http://linkedlifedata.com/resource/pubmed/chemical/LIM-Homeodomain Proteins
,
http://linkedlifedata.com/resource/pubmed/chemical/Transcription Factors
pubmed:status
MEDLINE
pubmed:issn
1090-0535
pubmed:author
pubmed-author:CarballoMiguelM
,
pubmed-author:GamundiMaria JoséMJ
,
pubmed-author:HernanImmaI
,
pubmed-author:Martínez-GimenoMariaM
,
pubmed-author:MilláElenaE
pubmed:issnType
Electronic
pubmed:volume
13
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
639-48
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed-meshheading:17515884-Adolescent
,
pubmed-meshheading:17515884-Adult
,
pubmed-meshheading:17515884-Aged
,
pubmed-meshheading:17515884-Aged, 80 and over
,
pubmed-meshheading:17515884-Child
,
pubmed-meshheading:17515884-Codon, Terminator
,
pubmed-meshheading:17515884-Female
,
pubmed-meshheading:17515884-Frameshift Mutation
,
pubmed-meshheading:17515884-Glaucoma, Open-Angle
,
pubmed-meshheading:17515884-Homeodomain Proteins
,
pubmed-meshheading:17515884-Humans
,
pubmed-meshheading:17515884-LIM-Homeodomain Proteins
,
pubmed-meshheading:17515884-Male
,
pubmed-meshheading:17515884-Middle Aged
,
pubmed-meshheading:17515884-Mutation
,
pubmed-meshheading:17515884-Nail-Patella Syndrome
,
pubmed-meshheading:17515884-Ocular Hypertension
,
pubmed-meshheading:17515884-Retina
,
pubmed-meshheading:17515884-Tomography, Optical Coherence
,
pubmed-meshheading:17515884-Transcription Factors
pubmed:year
2007
pubmed:articleTitle
Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.
pubmed:affiliation
Departamento de Oftalmología, Hospital Clínic de Barcelona, Barcelona, Spain. 28360emg@comb.es
pubmed:publicationType
Journal Article
,
Research Support, Non-U.S. Gov't