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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2010-11-24
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pubmed:abstractText |
Leber congenital amaurosis (LCA) is the earliest and most severe inherited retinal degeneration. Isolated forms of LCA frequently result from mutation of the CEP290 gene which is expressed in various ciliated tissues.
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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 |
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:CostaMM,
pubmed-author:Defoort-DhellemmesSS,
pubmed-author:EscudierEE,
pubmed-author:Fares-TaieLL,
pubmed-author:GérardXX,
pubmed-author:GerberSS,
pubmed-author:HaneinSS,
pubmed-author:KaplanJJ,
pubmed-author:LouisBB,
pubmed-author:PaponJ FJF,
pubmed-author:PerraultII,
pubmed-author:RozetJ MJM,
pubmed-author:VojtekA MAM
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pubmed:issnType |
Electronic
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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 |
829-34
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pubmed:meshHeading |
pubmed-meshheading:20805370-Adolescent,
pubmed-meshheading:20805370-Adult,
pubmed-meshheading:20805370-Antigens, Neoplasm,
pubmed-meshheading:20805370-Child,
pubmed-meshheading:20805370-Cilia,
pubmed-meshheading:20805370-Gene Expression Profiling,
pubmed-meshheading:20805370-Gene Expression Regulation,
pubmed-meshheading:20805370-Humans,
pubmed-meshheading:20805370-Leber Congenital Amaurosis,
pubmed-meshheading:20805370-Male,
pubmed-meshheading:20805370-Microscopy, Video,
pubmed-meshheading:20805370-Mutation,
pubmed-meshheading:20805370-Neoplasm Proteins,
pubmed-meshheading:20805370-Phenotype,
pubmed-meshheading:20805370-RNA, Messenger,
pubmed-meshheading:20805370-Respiratory System Abnormalities,
pubmed-meshheading:20805370-Young Adult
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pubmed:year |
2010
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pubmed:articleTitle |
Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.
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pubmed:affiliation |
INSERM, Unit U955, Creteil, France.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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