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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 survey patients with dominant retinitis pigmentosa (RP) for mutations in the RP1 gene to determine the spectrum of dominant mutations in this gene, to estimate the proportion of dominant RP caused by this gene, and to determine whether the clinical features of patients with RP1 mutations differ from features of those with rhodopsin mutations.
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pubmed:grant |
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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 |
2217-24
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:11527933-Adolescent,
pubmed-meshheading:11527933-Adult,
pubmed-meshheading:11527933-Aged,
pubmed-meshheading:11527933-Dark Adaptation,
pubmed-meshheading:11527933-Electroretinography,
pubmed-meshheading:11527933-Eye Proteins,
pubmed-meshheading:11527933-Female,
pubmed-meshheading:11527933-Frameshift Mutation,
pubmed-meshheading:11527933-Genes, Dominant,
pubmed-meshheading:11527933-Humans,
pubmed-meshheading:11527933-Male,
pubmed-meshheading:11527933-Middle Aged,
pubmed-meshheading:11527933-Mutation, Missense,
pubmed-meshheading:11527933-Pedigree,
pubmed-meshheading:11527933-Polymorphism, Genetic,
pubmed-meshheading:11527933-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:11527933-Retinitis Pigmentosa,
pubmed-meshheading:11527933-Rhodopsin,
pubmed-meshheading:11527933-Sequence Analysis, DNA,
pubmed-meshheading:11527933-Visual Acuity,
pubmed-meshheading:11527933-Visual Fields
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pubmed:year |
2001
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pubmed:articleTitle |
Clinical features and mutations in patients with dominant retinitis pigmentosa-1 (RP1).
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pubmed:affiliation |
Berman-Gund Laboratory for the Study of Retinal Degenerations and the Ocular Molecular Genetics Institute, Harvard Medical School and the Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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