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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2011-2-14
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pubmed:abstractText |
Leber congenital amaurosis (LCA) is genetically heterogeneous, with 15 genes identified thus far, accounting for ?70% of LCA patients. The aim of the present study was to identify new genetic causes of LCA.
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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 |
Feb
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pubmed:issn |
1552-5783
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pubmed:author |
pubmed-author:BerndAntjeA,
pubmed-author:CollinRob W JRW,
pubmed-author:CoppietersFraukeF,
pubmed-author:CremersFrans P MFP,
pubmed-author:De BaereElfride B WEB,
pubmed-author:Estrada-CuzcanoAlejandroA,
pubmed-author:HoyngCarel BCB,
pubmed-author:JacobsonSamuel GSG,
pubmed-author:KoenekoopRobert KRK,
pubmed-author:KohlSusanneS,
pubmed-author:LopezIrmaI,
pubmed-author:MarekJonahJ,
pubmed-author:MaumeneeIrene HIH,
pubmed-author:MeireFrançoiseF,
pubmed-author:RoeleveldDebbieD,
pubmed-author:RohrschneiderKlausK,
pubmed-author:ZrennerEberhartE,
pubmed-author:den HollanderAnneke IAI,
pubmed-author:van den BornL IngeborghLI
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pubmed:issnType |
Electronic
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pubmed:volume |
52
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
834-9
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pubmed:meshHeading |
pubmed-meshheading:20881296-Adolescent,
pubmed-meshheading:20881296-Adult,
pubmed-meshheading:20881296-Calmodulin-Binding Proteins,
pubmed-meshheading:20881296-Child,
pubmed-meshheading:20881296-Child, Preschool,
pubmed-meshheading:20881296-Chromosomes, Human, Pair 3,
pubmed-meshheading:20881296-Codon, Nonsense,
pubmed-meshheading:20881296-DNA Mutational Analysis,
pubmed-meshheading:20881296-Female,
pubmed-meshheading:20881296-Frameshift Mutation,
pubmed-meshheading:20881296-Genotype,
pubmed-meshheading:20881296-Humans,
pubmed-meshheading:20881296-Kidney Diseases, Cystic,
pubmed-meshheading:20881296-Leber Congenital Amaurosis,
pubmed-meshheading:20881296-Male,
pubmed-meshheading:20881296-Middle Aged,
pubmed-meshheading:20881296-Optic Atrophies, Hereditary,
pubmed-meshheading:20881296-Polymerase Chain Reaction,
pubmed-meshheading:20881296-Polymorphism, Single Nucleotide
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pubmed:year |
2011
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pubmed:articleTitle |
IQCB1 mutations in patients with leber congenital amaurosis.
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pubmed:affiliation |
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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