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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2004-11-23
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pubmed:abstractText |
To identify the chromosomal location of the gene causing snowflake vitreoretinal degeneration (SVD), an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment.
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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 |
Dec
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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 |
45
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
4498-503
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:15557460-Autoantigens,
pubmed-meshheading:15557460-Chromosome Mapping,
pubmed-meshheading:15557460-Chromosomes, Human, Pair 2,
pubmed-meshheading:15557460-Collagen Type IV,
pubmed-meshheading:15557460-Eye Diseases, Hereditary,
pubmed-meshheading:15557460-Genes, Dominant,
pubmed-meshheading:15557460-Genetic Linkage,
pubmed-meshheading:15557460-Genetic Testing,
pubmed-meshheading:15557460-Genome, Human,
pubmed-meshheading:15557460-Genotype,
pubmed-meshheading:15557460-Humans,
pubmed-meshheading:15557460-Lod Score,
pubmed-meshheading:15557460-Microsatellite Repeats,
pubmed-meshheading:15557460-Mutation,
pubmed-meshheading:15557460-Pedigree,
pubmed-meshheading:15557460-Prospective Studies,
pubmed-meshheading:15557460-Retinal Degeneration,
pubmed-meshheading:15557460-Retinal Detachment,
pubmed-meshheading:15557460-Vitreous Body
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pubmed:year |
2004
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pubmed:articleTitle |
Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36.
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pubmed:affiliation |
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland, 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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