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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 |
2007-8-28
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pubmed:abstractText |
To clinically characterize and genetically analyze members of six families who reside in the same village and manifest a rare form of retinal degeneration.
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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 |
Sep
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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 |
4308-14
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pubmed:meshHeading |
pubmed-meshheading:17724221-ATP-Binding Cassette Transporters,
pubmed-meshheading:17724221-Adolescent,
pubmed-meshheading:17724221-Adult,
pubmed-meshheading:17724221-Alternative Splicing,
pubmed-meshheading:17724221-Child,
pubmed-meshheading:17724221-Child, Preschool,
pubmed-meshheading:17724221-DNA Mutational Analysis,
pubmed-meshheading:17724221-Disease Progression,
pubmed-meshheading:17724221-Female,
pubmed-meshheading:17724221-Fluorescein Angiography,
pubmed-meshheading:17724221-Founder Effect,
pubmed-meshheading:17724221-Germ-Line Mutation,
pubmed-meshheading:17724221-Haplotypes,
pubmed-meshheading:17724221-Homozygote,
pubmed-meshheading:17724221-Humans,
pubmed-meshheading:17724221-Male,
pubmed-meshheading:17724221-Mutation,
pubmed-meshheading:17724221-Pedigree,
pubmed-meshheading:17724221-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:17724221-Retina,
pubmed-meshheading:17724221-Retinal Degeneration,
pubmed-meshheading:17724221-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:17724221-Sequence Deletion,
pubmed-meshheading:17724221-Visual Acuity,
pubmed-meshheading:17724221-Visual Fields
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pubmed:year |
2007
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pubmed:articleTitle |
Homozygosity for a novel ABCA4 founder splicing mutation is associated with progressive and severe Stargardt-like disease.
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pubmed:affiliation |
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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