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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
11
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pubmed:dateCreated |
2001-10-2
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pubmed:abstractText |
To determine the locus of the mutant gene causing autosomal recessive cone-rod dystrophy (arCRD) in a consanguineous pedigree, to evaluate a candidate gene expressed in retina that maps to this locus, and to estimate the percentage of arCRD cases caused by mutations in this gene.
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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:status |
MEDLINE
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pubmed:month |
Oct
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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 |
2458-65
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:11581183-Chromosome Mapping,
pubmed-meshheading:11581183-Chromosomes, Human, Pair 8,
pubmed-meshheading:11581183-Consanguinity,
pubmed-meshheading:11581183-DNA Mutational Analysis,
pubmed-meshheading:11581183-Electroretinography,
pubmed-meshheading:11581183-Female,
pubmed-meshheading:11581183-Gene Frequency,
pubmed-meshheading:11581183-Genes, Recessive,
pubmed-meshheading:11581183-Genes, Regulator,
pubmed-meshheading:11581183-Genotype,
pubmed-meshheading:11581183-Haplotypes,
pubmed-meshheading:11581183-Humans,
pubmed-meshheading:11581183-Lod Score,
pubmed-meshheading:11581183-Male,
pubmed-meshheading:11581183-Pedigree,
pubmed-meshheading:11581183-Photoreceptor Cells, Vertebrate,
pubmed-meshheading:11581183-Retinal Degeneration,
pubmed-meshheading:11581183-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:11581183-Sequence Analysis, DNA,
pubmed-meshheading:11581183-Visual Acuity,
pubmed-meshheading:11581183-Visual Fields
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pubmed:year |
2001
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pubmed:articleTitle |
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene.
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pubmed:affiliation |
Jules Stein Eye Institute, Los Angeles, California, USA. mdancige@lmu.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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