17515884

Source:http://linkedlifedata.com/resource/pubmed/id/17515884

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Predicate	Object
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, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10660670, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10767331, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-10966502, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-11175791, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-11956244, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-11956245, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-12624132, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15021216, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15364705, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15652827, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15774843, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-15928687, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-16825280, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-16973656, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-1957169, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-2643100, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-5537252, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7501017, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7585966, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7938009, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-7974745, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-8981956, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9190203, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9323941, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9590287, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9590288, http://linkedlifedata.com/resource/pubmed/commentcorrection/17515884-9618165, 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