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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2006-2-28
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pubmed:abstractText |
To test the efficiency of a microarray chip as a diagnostic tool in a cohort of northwestern European patients with Leber congenital amaurosis (LCA) and to perform a genotype-phenotype analysis in patients in whom pathologic mutations were identified.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
http://linkedlifedata.com/resource/pubmed/chemical/AIPL1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Alcohol Oxidoreductases,
http://linkedlifedata.com/resource/pubmed/chemical/CRB1 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Carrier Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Guanylate Cyclase,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/RDH12 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/RPE65 protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Receptors, Cell Surface,
http://linkedlifedata.com/resource/pubmed/chemical/guanylate cyclase 1
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0146-0404
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pubmed:author |
pubmed-author:AllikmetsRandoR,
pubmed-author:CasteelsIngeleI,
pubmed-author:CirianoJose P MartinezJP,
pubmed-author:CremersFrans P MFP,
pubmed-author:CruysbergJohannes RJR,
pubmed-author:De BaereElfrideE,
pubmed-author:KellnerUlrichU,
pubmed-author:LeroyBart PBP,
pubmed-author:MeireFrançoiseF,
pubmed-author:RoepmanRonaldR,
pubmed-author:RohrschneiderKlausK,
pubmed-author:VoesenekKrystaK,
pubmed-author:YzerSuzanneS,
pubmed-author:ZonneveldMarijke NMN,
pubmed-author:de FaberJan-Tjeerd H NJT,
pubmed-author:de RavelThomy JTJ,
pubmed-author:den HollanderAnneke IAI,
pubmed-author:van Moll-RamirezNorka GNG,
pubmed-author:van den BornL IngeborghLI
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pubmed:issnType |
Print
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1167-76
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16505055-Alcohol Oxidoreductases,
pubmed-meshheading:16505055-Blindness,
pubmed-meshheading:16505055-Carrier Proteins,
pubmed-meshheading:16505055-Child,
pubmed-meshheading:16505055-Child, Preschool,
pubmed-meshheading:16505055-DNA Mutational Analysis,
pubmed-meshheading:16505055-Eye Proteins,
pubmed-meshheading:16505055-Female,
pubmed-meshheading:16505055-Genetic Testing,
pubmed-meshheading:16505055-Genotype,
pubmed-meshheading:16505055-Guanylate Cyclase,
pubmed-meshheading:16505055-Humans,
pubmed-meshheading:16505055-Infant,
pubmed-meshheading:16505055-Male,
pubmed-meshheading:16505055-Membrane Proteins,
pubmed-meshheading:16505055-Mutation,
pubmed-meshheading:16505055-Nerve Tissue Proteins,
pubmed-meshheading:16505055-Oligonucleotide Array Sequence Analysis,
pubmed-meshheading:16505055-Phenotype,
pubmed-meshheading:16505055-Receptors, Cell Surface,
pubmed-meshheading:16505055-Retinitis Pigmentosa
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pubmed:year |
2006
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pubmed:articleTitle |
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.
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pubmed:affiliation |
The Rotterdam Eye Hospital, Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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