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rdf:type |
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lifeskim:mentions |
umls-concept:C0017337,
umls-concept:C0019425,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0242960,
umls-concept:C0332120,
umls-concept:C0332281,
umls-concept:C0392747,
umls-concept:C0443172,
umls-concept:C0679622,
umls-concept:C0740422,
umls-concept:C1405854,
umls-concept:C1419391,
umls-concept:C2700479
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pubmed:issue |
1
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pubmed:dateCreated |
2004-1-13
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pubmed:abstractText |
To evaluate the molecular genetic defects associated with retinitis punctata albescens (RPA) in 5 patients from 3 families with this disease.
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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 |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0003-9950
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
122
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
70-5
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pubmed:dateRevised |
2009-11-3
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pubmed:meshHeading |
pubmed-meshheading:14718298-Adult,
pubmed-meshheading:14718298-Carrier Proteins,
pubmed-meshheading:14718298-Child,
pubmed-meshheading:14718298-DNA Mutational Analysis,
pubmed-meshheading:14718298-Electroretinography,
pubmed-meshheading:14718298-Female,
pubmed-meshheading:14718298-Fundus Oculi,
pubmed-meshheading:14718298-Genetic Heterogeneity,
pubmed-meshheading:14718298-Heterozygote,
pubmed-meshheading:14718298-Humans,
pubmed-meshheading:14718298-Male,
pubmed-meshheading:14718298-Middle Aged,
pubmed-meshheading:14718298-Mutation,
pubmed-meshheading:14718298-Night Blindness,
pubmed-meshheading:14718298-Pedigree,
pubmed-meshheading:14718298-Retina,
pubmed-meshheading:14718298-Retinaldehyde,
pubmed-meshheading:14718298-Retinitis Pigmentosa,
pubmed-meshheading:14718298-Visual Acuity,
pubmed-meshheading:14718298-Visual Fields
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pubmed:year |
2004
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pubmed:articleTitle |
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
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pubmed:affiliation |
Department of Ophthalmology and Visual Sciences, UIC Eye Center, University of Illinois at Chicago, 60612, USA. gerafish@uic.edu
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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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