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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2001-8-30
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pubmed:abstractText |
To characterize the clinical features of 14 Japanese patients with autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mutation in the FSCN2 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 |
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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 |
42
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2395-400
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11527955-Adult,
pubmed-meshheading:11527955-Aged,
pubmed-meshheading:11527955-Aged, 80 and over,
pubmed-meshheading:11527955-Base Sequence,
pubmed-meshheading:11527955-Carrier Proteins,
pubmed-meshheading:11527955-Child,
pubmed-meshheading:11527955-Child, Preschool,
pubmed-meshheading:11527955-DNA Mutational Analysis,
pubmed-meshheading:11527955-DNA Primers,
pubmed-meshheading:11527955-Electroretinography,
pubmed-meshheading:11527955-Eye Proteins,
pubmed-meshheading:11527955-Female,
pubmed-meshheading:11527955-Fluorescein Angiography,
pubmed-meshheading:11527955-Genes, Dominant,
pubmed-meshheading:11527955-Humans,
pubmed-meshheading:11527955-Male,
pubmed-meshheading:11527955-Microfilament Proteins,
pubmed-meshheading:11527955-Middle Aged,
pubmed-meshheading:11527955-Molecular Sequence Data,
pubmed-meshheading:11527955-Pedigree,
pubmed-meshheading:11527955-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11527955-Retinitis Pigmentosa,
pubmed-meshheading:11527955-Sequence Analysis, DNA,
pubmed-meshheading:11527955-Sequence Deletion,
pubmed-meshheading:11527955-Visual Acuity,
pubmed-meshheading:11527955-Visual Fields
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pubmed:year |
2001
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pubmed:articleTitle |
Mutation of human retinal fascin gene (FSCN2) causes autosomal dominant retinitis pigmentosa.
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pubmed:affiliation |
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan. yukow@oph.med.tohoku.ac.jp
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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