Linked Life Data

8053822

Source:http://linkedlifedata.com/resource/pubmed/id/8053822

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
8
pubmed:dateCreated
1994-9-6
pubmed:abstractText
Three stromal corneal dystrophies (granular, lattice type 1, and Avellino) were recently mapped to a single locus on chromosome 5. This study was conducted to determine if there is histologic evidence to support the allelic relationship suggested by the genetic studies. We examined 23 corneal buttons from the two families with lattice dystrophy and 13 corneal buttons from the two families with granular dystrophy who were involved in the chromosomal linkage studies. In the two families with clinically typical granular dystrophy, one corneal button also contained focal amyloid deposits. In both families with clinically typical lattice dystrophy type 1, we found evidence of granular deposits. The genetic linkage studies demonstrate only that the disease-causing mutations for these three stromal dystrophies share the same genetic locus. However, the evidence of histologic overlap strongly suggests that these dystrophies are caused by mutations within the same gene.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Aug
pubmed:issn
0003-9950
pubmed:author
pubmed:issnType
Print
pubmed:volume
112
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1080-5
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
The relationship between granular, lattice type 1, and Avellino corneal dystrophies. A histopathologic study.
pubmed:affiliation
Department of Ophthalmology, University of Iowa, Iowa City.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't