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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2005-7-18
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pubmed:abstractText |
Keratoconus is a corneal dystrophy with an incidence of 1 in 2000 and a leading cause for cornea transplantation in Western developed countries. Both clinical observations and segregation analyses suggest a major role for genes in its pathogenesis. It is genetically heterogeneous, most commonly sporadic, but inherited patterns with recessive or dominant modes have also been reported. We studied a four-generation autosomal-dominant pedigree to identify disease loci for keratoconus.
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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:issn |
1098-3600
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
397-405
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:16024971-Adult,
pubmed-meshheading:16024971-Age of Onset,
pubmed-meshheading:16024971-Aged,
pubmed-meshheading:16024971-Aged, 80 and over,
pubmed-meshheading:16024971-Chromosome Mapping,
pubmed-meshheading:16024971-Chromosomes, Human, Pair 5,
pubmed-meshheading:16024971-European Continental Ancestry Group,
pubmed-meshheading:16024971-Female,
pubmed-meshheading:16024971-Gene Frequency,
pubmed-meshheading:16024971-Genetic Linkage,
pubmed-meshheading:16024971-Genetic Markers,
pubmed-meshheading:16024971-Genetic Predisposition to Disease,
pubmed-meshheading:16024971-Genome, Human,
pubmed-meshheading:16024971-Genotype,
pubmed-meshheading:16024971-Humans,
pubmed-meshheading:16024971-Keratoconus,
pubmed-meshheading:16024971-Lod Score,
pubmed-meshheading:16024971-Male,
pubmed-meshheading:16024971-Microsatellite Repeats,
pubmed-meshheading:16024971-Middle Aged,
pubmed-meshheading:16024971-Pedigree,
pubmed-meshheading:16024971-Penetrance
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pubmed:articleTitle |
Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.
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pubmed:affiliation |
Medical Genetics Institute, Cedars-Sinai Medical Center, 665W 8700 Beverly Boulevard, Los Angeles, CA 90048, 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,
Research Support, N.I.H., Extramural
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