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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2006-8-28
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pubmed:abstractText |
To test human CRB1 heterozygotes for possible clinical or functional retinal changes and to evaluate whether a patient with Leber congenital amaurosis (LCA) with CRB1 mutations not consistent with previously described CRB1 phenotypes carried a modifier allele in another LCA gene.
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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/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/Homeodomain Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins,
http://linkedlifedata.com/resource/pubmed/chemical/Trans-Activators,
http://linkedlifedata.com/resource/pubmed/chemical/cone rod homeobox protein
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0146-0404
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pubmed:author |
pubmed-author:Al-ZuhaibiSanaS,
pubmed-author:AllikmetsRandoR,
pubmed-author:ChakorHadiH,
pubmed-author:CremersFrans P MFP,
pubmed-author:DorfmanAllisonA,
pubmed-author:FishmanGerald AGA,
pubmed-author:KoenekoopRobert KRK,
pubmed-author:LachapellePierreP,
pubmed-author:LopezIrmaI,
pubmed-author:RacineJulieJ,
pubmed-author:SzlykJanetJ,
pubmed-author:YzerSuzanneS,
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 |
3736-44
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16936081-Adult,
pubmed-meshheading:16936081-Alleles,
pubmed-meshheading:16936081-Blindness,
pubmed-meshheading:16936081-Carrier Proteins,
pubmed-meshheading:16936081-Child,
pubmed-meshheading:16936081-Child, Preschool,
pubmed-meshheading:16936081-Chromatography, High Pressure Liquid,
pubmed-meshheading:16936081-Electroretinography,
pubmed-meshheading:16936081-Eye Proteins,
pubmed-meshheading:16936081-Female,
pubmed-meshheading:16936081-Genetic Testing,
pubmed-meshheading:16936081-Genotype,
pubmed-meshheading:16936081-Heterozygote,
pubmed-meshheading:16936081-Homeodomain Proteins,
pubmed-meshheading:16936081-Humans,
pubmed-meshheading:16936081-Male,
pubmed-meshheading:16936081-Membrane Proteins,
pubmed-meshheading:16936081-Middle Aged,
pubmed-meshheading:16936081-Mutation,
pubmed-meshheading:16936081-Nerve Tissue Proteins,
pubmed-meshheading:16936081-Pedigree,
pubmed-meshheading:16936081-Retina,
pubmed-meshheading:16936081-Retinal Degeneration,
pubmed-meshheading:16936081-Trans-Activators
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pubmed:year |
2006
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pubmed:articleTitle |
CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.
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pubmed:affiliation |
McGill Ocular Genetics Centre, Division of Ophthalmology, Montreal, Quebec, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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