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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2007-10-26
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pubmed:abstractText |
To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD).
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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 |
Nov
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pubmed:issn |
0146-0404
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
5160-7
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pubmed:meshHeading |
pubmed-meshheading:17962469-Adult,
pubmed-meshheading:17962469-Blindness,
pubmed-meshheading:17962469-Child,
pubmed-meshheading:17962469-Child, Preschool,
pubmed-meshheading:17962469-Chromosome Mapping,
pubmed-meshheading:17962469-Chromosomes, Human, Pair 6,
pubmed-meshheading:17962469-Consanguinity,
pubmed-meshheading:17962469-DNA Mutational Analysis,
pubmed-meshheading:17962469-Electroretinography,
pubmed-meshheading:17962469-Eye Proteins,
pubmed-meshheading:17962469-Female,
pubmed-meshheading:17962469-Genes, Duplicate,
pubmed-meshheading:17962469-Humans,
pubmed-meshheading:17962469-Male,
pubmed-meshheading:17962469-Microsatellite Repeats,
pubmed-meshheading:17962469-Mutation,
pubmed-meshheading:17962469-Myopia,
pubmed-meshheading:17962469-Nystagmus, Congenital,
pubmed-meshheading:17962469-Pedigree,
pubmed-meshheading:17962469-Retinal Degeneration,
pubmed-meshheading:17962469-Tomography, Optical Coherence,
pubmed-meshheading:17962469-Vision Disorders
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pubmed:year |
2007
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pubmed:articleTitle |
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
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pubmed:affiliation |
IRO (Institute of Research in Ophthalmology), Sion, Switzerland.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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