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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2011-7-4
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pubmed:abstractText |
To describe the mutations in the CLRN1 gene in patients from 2 consanguineous Pakistani families diagnosed with autosomal recessive retinitis pigmentosa (arRP).
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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 |
Jul
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pubmed:issn |
1549-4713
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pubmed:author |
pubmed-author:AzamMaleehaM,
pubmed-author:CollinRob W JRW,
pubmed-author:CremersFrans P MFP,
pubmed-author:HussainAlamdarA,
pubmed-author:KerstenFerry F JFF,
pubmed-author:KeunenJan E EJE,
pubmed-author:KhanMuhammad ImranMI,
pubmed-author:KremerHannieH,
pubmed-author:QamarRaheelR,
pubmed-author:ShahSyed Tahir-AST,
pubmed-author:den HollanderAnneke IAI
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pubmed:copyrightInfo |
Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
118
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1444-8
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pubmed:meshHeading |
pubmed-meshheading:21310491-Adult,
pubmed-meshheading:21310491-Audiometry, Pure-Tone,
pubmed-meshheading:21310491-Consanguinity,
pubmed-meshheading:21310491-DNA,
pubmed-meshheading:21310491-Electroretinography,
pubmed-meshheading:21310491-Fundus Oculi,
pubmed-meshheading:21310491-Genes, Recessive,
pubmed-meshheading:21310491-Genetic Linkage,
pubmed-meshheading:21310491-Humans,
pubmed-meshheading:21310491-Intracellular Space,
pubmed-meshheading:21310491-Leucine,
pubmed-meshheading:21310491-Membrane Proteins,
pubmed-meshheading:21310491-Microarray Analysis,
pubmed-meshheading:21310491-Mutation, Missense,
pubmed-meshheading:21310491-Night Blindness,
pubmed-meshheading:21310491-Polymorphism, Single Nucleotide,
pubmed-meshheading:21310491-Proline,
pubmed-meshheading:21310491-Retinitis Pigmentosa,
pubmed-meshheading:21310491-Tissue Distribution,
pubmed-meshheading:21310491-Tryptophan,
pubmed-meshheading:21310491-Young Adult
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pubmed:year |
2011
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pubmed:articleTitle |
CLRN1 mutations cause nonsyndromic retinitis pigmentosa.
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pubmed:affiliation |
Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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