16214101

Source:http://linkedlifedata.com/resource/pubmed/id/16214101

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0026882, umls-concept:C0035334, umls-concept:C0424972, umls-concept:C1416427, umls-concept:C1867299, umls-concept:C1880022
pubmed:issue	5
pubmed:dateCreated	2005-11-28
pubmed:abstractText	To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn).
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/EY014170, http://linkedlifedata.com/resource/pubmed/grant/EY05235, http://linkedlifedata.com/resource/pubmed/grant/EY09076, http://linkedlifedata.com/resource/pubmed/grant/R01 EY007142-12A2
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pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0370500
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/IMP Dehydrogenase, http://linkedlifedata.com/resource/pubmed/chemical/IMPDH1 protein, human
pubmed:status	MEDLINE
pubmed:month	Nov
pubmed:issn	0002-9394
pubmed:author	pubmed-author:BirchDavid GDG, pubmed-author:BowneSara JSJ, pubmed-author:DaigerStephen PSP, pubmed-author:FishGarry EGE, pubmed-author:GireAnisa IAI, pubmed-author:Hughbanks-WheatonDianna KDK, pubmed-author:KozmaPetraP, pubmed-author:LockeKirsten GKG, pubmed-author:SpellicyCatherine JCJ, pubmed-author:SullivanLori SLS
pubmed:issnType	Print
pubmed:volume	140
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	858-867
pubmed:dateRevised	2010-9-20
pubmed:meshHeading	pubmed-meshheading:16214101-Adolescent, pubmed-meshheading:16214101-Adult, pubmed-meshheading:16214101-Color Vision Defects, pubmed-meshheading:16214101-Electroretinography, pubmed-meshheading:16214101-Female, pubmed-meshheading:16214101-Genes, Dominant, pubmed-meshheading:16214101-Humans, pubmed-meshheading:16214101-IMP Dehydrogenase, pubmed-meshheading:16214101-Male, pubmed-meshheading:16214101-Middle Aged, pubmed-meshheading:16214101-Mutation, Missense, pubmed-meshheading:16214101-Pedigree, pubmed-meshheading:16214101-Phenotype, pubmed-meshheading:16214101-Prospective Studies, pubmed-meshheading:16214101-Retinitis Pigmentosa, pubmed-meshheading:16214101-Tomography, Optical Coherence, pubmed-meshheading:16214101-Vision Disorders, pubmed-meshheading:16214101-Visual Acuity, pubmed-meshheading:16214101-Visual Fields
pubmed:year	2005
pubmed:articleTitle	Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.
pubmed:affiliation	Retina Foundation of the Southwest, Dallas, Texas 75231, USA. petra@retinafoundation.org
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't

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